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Gene: Fcmr MGI:1916419

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Gene Summary

Name:
Fc fragment of IgM receptor
Synonyms:
Faim3,  1810037B05Rik,  FcmuR

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased prepulse inhibition Fcmrtm1b(KOMP)Wtsi HOM Early adult 9.30×10-05
enlarged adrenal glands Fcmrtm1b(KOMP)Wtsi HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Eye Morphology

Images Slit Lamp

2 Images

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X-ray

XRay Images Skull Lateral Orientation

11 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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X-ray

XRay Images Hind Leg and Hip

5 Images

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X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Human diseases caused by Fcmr mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Fcmr by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Abnormal T cell count, Antinuclear antibody positivity, ... OMIM:613495
Immunodeficiency 18
Defective T cell proliferation, Recurrent otitis media, Recurrent respiratory infections, Decreas... OMIM:615615
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunodeficiency 62
Recurrent lower respiratory tract infections, Complete or near-complete absence of specific antib... OMIM:618459
B-Cell Expansion With Nfkb And T-Cell Anergy
Recurrent infections, Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decr... OMIM:616452
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Decreased proportion of class-switched memory B cells, Chronic decreased ... OMIM:613493
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Recurrent infections, Splenomegaly, Decreased circulating total IgM OMIM:606445
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Recurrent ear infections,... OMIM:615513
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Recurrent respiratory infections, Recurrent p... OMIM:613500
Immunodeficiency 64 With Lymphoproliferation
Splenomegaly, Decreased lymphocyte proliferation in response to mitogen, Defective T cell prolife... OMIM:618534
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Recurrent infection of the gastrointestinal tract, Recurrent sino... OMIM:609529
Immunodeficiency 112
Recurrent lower respiratory tract infections, Decreased proportion of gamma-delta T cells, Decrea... OMIM:620449
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Recurrent infections, Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell m... OMIM:616911
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocyte transfo... OMIM:153600
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy, Impaired Ig class switch recombination, Complete or near-complete absence of spe... OMIM:605258
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Decreased circulating IgG level, Recurrent pn... OMIM:613502
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, Recurrent candida infections, Recurrent bacterial infections, T ... OMIM:242870
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology, Recurrent viral infections, Recurrent protozoan infections, Rec... OMIM:308220
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Decreased circulating IgG level, Recurrent sinusitis, Transient... OMIM:619707
Immunodeficiency 25
Autoimmune hemolytic anemia, Recurrent candida infections, Anti-smooth muscle antibody positivity... OMIM:610163
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Recurrent lower re... OMIM:619220
Histiocytosis, Familial Lipochrome
Recurrent infections, Histiocytosis, Increased circulating antibody level OMIM:235900
Autoimmune Lymphoproliferative Syndrome
Decreased lymphocyte apoptosis, Splenomegaly, Anti-smooth muscle antibody positivity, Increased c... OMIM:601859
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, B lymphocytopenia, Recurrent bronchitis, Decr... OMIM:612692
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Decr... OMIM:619924
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Recurrent bacteria... OMIM:240500
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Increased circulating interleukin 6 concentration, Decreased proportion o... OMIM:618944
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Immunodeficiency 50
Recurrent urinary tract infections, Decreased circulating antibody level, Lymphopenia, Recurrent ... OMIM:300988
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched mem... OMIM:607594
Immunodeficiency 95
Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections, Recurrent v... OMIM:619773
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutini... OMIM:300400
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Decreased CD4:CD8 ratio, Lymphadenopathy, Complete or ... OMIM:607271
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Immunodeficiency 35
Increased circulating IgE level, Recurrent viral infections, Recurrent mycobacterial infections, ... OMIM:611521
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Recurrent otitis media, Increased circulating interleukin 6 concentr... OMIM:620430
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Lymphadenopathy, Increased circulating IgG level, Recurrent infections, I... OMIM:618982
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy, Impaired Ig class switch recombination, Decreased circulating IgG level, Increas... OMIM:608106
Immunodeficiency 8 With Lymphoproliferation
Chronic oral candidiasis, Recurrent otitis media, Recurrent lower respiratory tract infections, C... OMIM:615401
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Immunodeficiency 61
Recurrent otitis media, Recurrent bacterial infections, Decreased circulating IgG4 level, Recurre... OMIM:300310
Immunodeficiency 102
Recurrent sinusitis, Leukopenia, Increased proportion of CD8-positive, alpha-beta TEMRA T cells, ... OMIM:301082
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, Recurrent infections, B lymphocytopenia, Increas... OMIM:619824
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,... OMIM:616636
Immunodeficiency 36 With Lymphoproliferation
Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, B lymphocytopenia, Incr... OMIM:616005
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent infections, B lymphocytopenia, Agammaglobulinemia, Recurrent otitis media OMIM:616941
Immunodeficiency 34
BCGosis, Pulmonary tuberculosis, Recurrent mycobacterial infections OMIM:300645
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent otitis media, Abnormal immunoglobulin level, Absent peripheral lymph nodes in presence ... ORPHA:98813
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased proportion of CD3-positive T cells, Reduced antigen-specific T cell proliferation, Lymp... ORPHA:331206
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Recurrent vir... ORPHA:169079
Transcobalamin Deficiency
Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... ORPHA:859
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, Recurrent respiratory infections, B lymphocytopenia, T lymphocyt... OMIM:233650
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Autoimmune Lymphoproliferative Syndrome, Type Iia
Decreased lymphocyte apoptosis, Splenomegaly, Anti-smooth muscle antibody positivity, Increased c... OMIM:603909
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Decreased circulating ant... OMIM:619846
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Ne... OMIM:619281
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Absent isohemagglutinin level, Recurrent lowe... OMIM:613501
Immunodeficiency 52
Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Recurrent in... OMIM:617514
Immunoglobulin A Deficiency 1
Recurrent infections, Recurrent infection of the gastrointestinal tract, Autoimmunity, Recurrent ... OMIM:137100
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Panhypogammaglobulinemia, Recurrent respiratory infections, Recurrent... OMIM:615214
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Increased cir... OMIM:618495
Immunodeficiency 11A
Recurrent respiratory infections, Decreased circulating antibody level, Reduced antigen-specific ... OMIM:615206
Immunodeficiency 70
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Decreas... OMIM:618969
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Increased circulating antibody level, Recurrent respiratory infections, Pancytopeni... OMIM:614470
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level, Lymphopenia OMIM:247800
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Recurrent herpes, Disseminated cryptosporidium infection, Recurr... OMIM:614372
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Increased circulating antibody level, Decreased proportion of CD3-positive T cel... ORPHA:169154
Activated Pi3K-Delta Syndrome
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, ... ORPHA:397596
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Decreased circulating I... OMIM:611926
Adult Idiopathic Neutropenia
Recurrent infections, Increased circulating IgM level, Helicobacter pylori infection, Lymphopenia... ORPHA:2688
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, B lymphocytopenia, Increased circulating IgE level, Lack of T cell functi... ORPHA:277
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating IgE, Pancytopenia, Perinuclear antineutrophil ant... OMIM:618394
Immunodeficiency 10
Increased circulating IgG3 level, Autoimmune hemolytic anemia, Sepsis, Recurrent otitis media, He... OMIM:612783
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA le... OMIM:618048
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Hepatomegaly, Hemophagocytosis, Recurrent pharyngitis, Pan... OMIM:308240
Immunodeficiency 15B
Chronic oral candidiasis, Recurrent infections, Decreased circulating antibody level, Agammaglobu... OMIM:615592
Immunodeficiency 96
Defective T cell proliferation, Recurrent otitis media, Recurrent lower respiratory tract infecti... OMIM:619774
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency 27A
Anemia, Lymphadenopathy, Increased circulating IgG level, Leukocytosis, Rheumatoid factor positiv... OMIM:209950
Lymphoproliferative Syndrome 3
Lymphadenopathy, Recurrent infections, Decreased circulating antibody level, Partial absence of s... OMIM:618261
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Antinuclear antibody pos... OMIM:615559
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent candida infections, Recurrent infections, B lymphocytopenia, Decreased circulating anti... OMIM:614069
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Recurrent infectio... OMIM:614699
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Recurrent bronc... OMIM:312863
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Recurrent bacterial skin infections, Lymph node hyp... ORPHA:276
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmunity, Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:617006
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Decreased circulating antibody level, Acute lymphoblastic leukem... OMIM:616873
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Sepsis, Hepatomegaly, Recurrent lower respiratory tract infections, ... OMIM:616100
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgE, T lymphocytopenia, Decreased proportion of memory B cells, Decreased c... OMIM:619510
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism OMIM:103900
Immunodeficiency 97 With Autoinflammation
Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased... OMIM:619802
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Mediastinal lympha... OMIM:300853
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac... ORPHA:70592
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic oral candidiasis, Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportio... OMIM:212050
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Recurrent urinary tract infections, Decreased circulating IgG level, Leukopenia, Sp... OMIM:620210
Immunodeficiency 48
Recurrent candida infections, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglu... OMIM:269840
Immunodeficiency 22
Chronic oral candidiasis, Decreased circulating total IgM, Anemia, Decreased circulating IgE, Rec... OMIM:615758
Immunodeficiency 38 With Basal Ganglia Calcification
Severe viral infection, BCGitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:616126
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Monoclonal i... ORPHA:318
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency 109 With Lymphoproliferation
Recurrent lower respiratory tract infections, Pancytopenia, Complete or near-complete absence of ... OMIM:620282
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM, Pneumocystis jirovecii pneumoni... OMIM:300636
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... OMIM:308230
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Decreased ... OMIM:619705
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Recurrent respiratory infections, Decreased circulating IgG leve... ORPHA:2643
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Reduced circulating interleukin 22 concentratio... OMIM:619632
Immunodeficiency 37
Recurrent infections, Decreased circulating antibody level, Decreased proportion of central memor... OMIM:616098
Immunodeficiency, Common Variable, 10
Recurrent otitis media, Recurrent viral upper respiratory tract infections, Frequent Giardia lamb... OMIM:615577
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sepsis, Recurrent otitis media, Sclerosing cholangitis, Recurrent bacterial infections, Increased... OMIM:243700
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Increased circulating antibody level, Thrombocytosis, Congenital agranulocytosis, Acute m... OMIM:202700
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Chronic oral candidiasis, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent r... ORPHA:35078
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Coccidioidomycosis, Abnor... ORPHA:319552
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased proportion of class-switched memory B cells, Bronchiolitis, Recurrent sinopulmonary inf... OMIM:614878
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Increased circulating IgE level, Abnormal ... OMIM:615767
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia, Antiphospholipid antibody positivity OMIM:182410
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Decreased circulating total IgM, Increased circulating IgE level OMIM:617638
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Chronic mucocutaneous candidiasis, Recurrent upper respiratory t... OMIM:619752
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Decreased proportion of CD3-positive T cells, Decreased circulating IgG... ORPHA:275
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... ORPHA:70593
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections OMIM:616022
Immunodeficiency, Common Variable, 6
Hepatomegaly, Recurrent respiratory infections, Complete or near-complete absence of specific ant... OMIM:613496
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Immune Deficiency, Familial Variable
Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Anemia, Increased circulating antibody level, Recurrent infections, Thrombocytopeni... OMIM:615285
Immunodeficiency 46
Chronic oral candidiasis, Sepsis, Anemia, Decreased circulating antibody level, Intermittent thro... OMIM:616740
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Increased circulating IgM level, Splenomegaly ORPHA:37748
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Recurrent upper respirator... OMIM:193670
Ficolin 3 Deficiency
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat... OMIM:613860
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Panhypogammaglobulinemia, Sclerosing cholangitis, T l... ORPHA:572
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of transitional B cells, Recur... ORPHA:331235
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, Recurrent ... OMIM:102700
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Recurrent candida infections, Sepsis, Hepatomegaly, Recurrent lower ... ORPHA:436159
Immunodeficiency 31A
Recurrent mycobacterium avium complex infections, Recurrent viral infections, BCGitis, Herpes sim... OMIM:614892
Autoinflammatory Disease, Systemic, X-Linked
B lymphocytopenia, Complete or near-complete absence of specific antibody response to unconjugate... OMIM:301081
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent abscess formation, Chronic oral candidiasis, Recurrent candida infections, Increased ci... ORPHA:169160
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Sepsis, Recurrent otitis media, Generalized lymphadenopathy, Recurre... OMIM:614700
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... OMIM:607676
Agammaglobulinemia, X-Linked
Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Lymph node hypoplasia, Neutrop... OMIM:300755
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Recurrent infections, Me... OMIM:617780
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
Immunodeficiency 9
Abnormal natural killer cell count, Recurrent infections, Hypoplasia of the thymus, Decreased cir... OMIM:612782
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:300861
Immunodeficiency 57 With Autoinflammation
Perianal abscess, B lymphocytopenia, Decreased circulating antibody level, Partial absence of spe... OMIM:618108
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Recurrent sinusitis, Leukopenia, Lymphopenia, Abnormally low T cell receptor e... OMIM:618986
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, B lymphocytopenia,... OMIM:601457
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia, Antiphospholipid antibody ... ORPHA:90280
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent candida infections, B lymphocytopenia, Increased circulating IgE level, Recurrent bacte... ORPHA:217390
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Decreased pro... OMIM:619374
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hepatomegaly, Hemo... OMIM:301078
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Recurrent infections, Decreased circulating antibody level, Recurren... OMIM:616576
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent Staphylococcus aureus infections, Rec... OMIM:613953
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Splenomegaly, Abnorm... ORPHA:100024
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Decreased circulating IgG level, Abnormal circulating IgA level,... OMIM:241600
Immunodeficiency 23
Recurrent Staphylococcus aureus infections, Increased circulating IgG level, Increased circulatin... OMIM:615816
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol concentration OMIM:201910
Reticular Dysgenesis
Sepsis, Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T... OMIM:267500
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Congenital Disorder Of Glycosylation, Type Iir
Jaundice, Hepatomegaly, Recurrent infections, Decreased circulating antibody level, Micronodular ... OMIM:301045
Immunodeficiency 116
Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory infections OMIM:608957
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hemophagocytosis, Lymphadenopathy, Decreased circulating antibody level, Abnormal natural... OMIM:613101
Insulin Autoimmune Syndrome
Autoimmunity, Autoimmune antibody positivity, Increased circulating antibody level, Systemic lupu... ORPHA:411593
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody response to Haemophilus... OMIM:620632
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Recurrent otitis media, Abnormal B cell morphology, Recurrent infections, Decreased circulating a... OMIM:616910
Igg4-Related Aortitis
Increased circulating antibody level, Increased circulating IgE level, Hypereosinophilia, Reduced... ORPHA:449400
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre... ORPHA:3453
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... ORPHA:404
Reticular Dysgenesis
Sepsis, Anemia, Decreased circulating antibody level, Leukopenia, Aplasia/Hypoplasia of the thymu... ORPHA:33355
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Reduced antigen-specific T cell proliferation, T ly... ORPHA:443811
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Recurrent respiratory infections, Antiphospholipid antibody positivity, Increased circula... OMIM:615934
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections OMIM:607624
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster... ORPHA:403
Bone Marrow Failure Syndrome 4
Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocytopenia, Leuk... OMIM:618116
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Decreased circulating antibody level, Leukocytosis, Recurrent respiratory infections OMIM:618042
Boutonneuse Fever
Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Th... ORPHA:83313
Bare Lymphocyte Syndrome, Type Ii
Recurrent lower respiratory tract infections, Panhypogammaglobulinemia, Recurrent urinary tract i... OMIM:209920
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Recurrent infection of the g... OMIM:608184
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Anti-smooth muscle antibody positivity, Anti-liver cytosoli... ORPHA:562639
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Cholecystitis, Cholangitis, Recurrent tonsillitis, Decreased specific pneumococcal antibody level... ORPHA:183675
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Recurrent infections, Decreased ci... OMIM:300635
Kimura Disease
Follicular hyperplasia, Eosinophilia, Increased circulating IgE level, Lymphadenopathy ORPHA:482
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Panhypogammaglobulinemia, Recurrent respiratory infections, Recurrent bac... OMIM:601495
Immunoglobulin Kappa Light Chain Deficiency
Recurrent infections, Recurrent respiratory infections, Absent circulating immunoglobulin kappa c... OMIM:614102
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy, Increased proportion of CD4-positive T cells, Increased circulating IgA level, L... OMIM:617099
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Recurrent bacterial infections, Absent circulating B cells OMIM:619693
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent low... OMIM:600802
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ... ORPHA:90362
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Decreased circulating IgA level, Reduced natural killer cell cou... OMIM:242860
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent pneumonia, Recurrent bacterial infections, Recurrent tonsillitis OMIM:613779
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent sinusitis, Lymphopenia, Rec... OMIM:301000
Lymphoproliferative Syndrome 2
Aplastic anemia, Sepsis, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Recurrent... OMIM:615122
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia OMIM:152800
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Adrenal hyperplasia, ... OMIM:219080
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Recurrent bacterial infections, Increased circulating IgA level, Abnormal c... OMIM:300291
Panniculitis-Induced Localized Lipodystrophy
Antinuclear antibody positivity, Abnormal immunoglobulin level ORPHA:90159
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Sepsis, Hepatomegaly, Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia, Increas... OMIM:602450
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased specific anti-polysaccharide ant... OMIM:606367
Immunodeficiency 92
Hepatomegaly, Abnormal B cell proliferation, Thrombocytosis, Sclerosing cholangitis, Decreased pr... OMIM:619652
Immunodeficiency 17
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Decreased proporti... OMIM:615607
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hepatomegaly, Increased circulating IgG level, Increased circulating... OMIM:617388
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased circulating total IgG, Chronic oral candidiasis, B lymphocytopenia, Recurrent urinary t... ORPHA:221139
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism OMIM:613677
Transcobalamin Ii Deficiency
Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, D... OMIM:275350
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Autoimmune Hepatitis
Cirrhosis, Anti-smooth muscle antibody positivity, Jaundice, Increased circulating antibody level... ORPHA:2137
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Immunodeficiency 32B
Hepatomegaly, Anemia, Recurrent infections, Abnormal circulating IgG level, Eosinophilia, Neutrop... OMIM:226990
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Recurrent viral infections, Recurrent respiratory ... OMIM:620532
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism, Increased circulating cortisol ... OMIM:615830
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly ORPHA:100025
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc... OMIM:615952
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia ORPHA:1116
Immunodeficiency 47
Decreased circulating total IgG, Normocytic anemia, Cirrhosis, Hepatomegaly, Accessory spleen, Re... OMIM:300972
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn... OMIM:619767
Neuronal Intestinal Pseudoobstruction
Recurrent infections, Decreased circulating antibody level ORPHA:99811
Acquired Partial Lipodystrophy
Decreased circulating complement C3 concentration, Autoimmunity, Hepatic steatosis, Lymphocytosis ORPHA:79087
Specific Granule Deficiency 1
Recurrent otitis media, Recurrent pneumonia, Impaired neutrophil bactericidal activity, Impaired ... OMIM:245480
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACTH co... OMIM:615954
Complement Factor B Deficiency
Recurrent meningococcal disease, Meningitis, Recurrent bacterial infections OMIM:615561
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased proportion of CD8-positive T cel... ORPHA:911
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldoster... ORPHA:251274
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism OMIM:183350
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level... ORPHA:74
Autoinflammatory Disease, Systemic, With Vasculitis
Cholestasis, Increased T cell count, Anti-Sm antibody positivity, Splenomegaly, Jaundice, Increas... OMIM:620376
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Abnorma... ORPHA:90793
Immunodeficiency 114, Folate-Responsive
Hepatomegaly, Recurrent lower respiratory tract infections, Increased circulating IgE level, Mega... OMIM:620603
Dyskeratosis Congenita, Digenic
Anemia, Recurrent infections, Decreased circulating IgG level, Decreased circulating total IgM, D... OMIM:620040
Immunodeficiency 110 With Lymphoproliferation
Sepsis, Recurrent lower respiratory tract infections, Persistent EBV viremia, Chronic mucocutaneo... OMIM:614868
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent abscess formation, Panhypogammaglobulinemia, T lymphocytopenia, Jaundice, Pancytopenia,... ORPHA:79124
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Recurrent otitis media, Sterile abscess, Recurrent infections, Increase... OMIM:618282
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Chronic lymphatic leukemia, Monoclonal elevation of circulating IgA,... ORPHA:91139
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Neutropenia OMIM:618752
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Recurrent otitis media, Recurrent respiratory infe... OMIM:618523
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy, Recurrent infections OMIM:251240
Inflammatory Pseudotumor Of The Liver
Cirrhosis, Increased hepatitis B virus antibody level, Abnormal liver sonography, Biliary tract a... ORPHA:90003
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Mucopolysaccharidosis-Plus Syndrome
Sepsis, Hepatomegaly, Anemia, Macrovesicular hepatic steatosis, Recurrent bronchopulmonary infect... OMIM:617303
Myeloma, Multiple
Paraproteinemia OMIM:254500
Immunodeficiency 12
Absent isohemagglutinin level, Recurrent lower respiratory tract infections, Complete or near-com... OMIM:615468
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Sepsis, Abnormal circulating interleukin concentr... ORPHA:70578
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive primary hypera... ORPHA:231580
Secondary Intestinal Lymphangiectasia
Cirrhosis, Recurrent infections, Decreased circulating antibody level, Lymphopenia, Decreased cir... ORPHA:90363
Tempi Syndrome
Increased circulating IgG level, Polycythemia, Increased hematocrit ORPHA:284227
Immunodeficiency 27B
Recurrent mycobacterium avium complex infections, Recurrent mycobacterial infections OMIM:615978
Primary Biliary Cholangitis
Cirrhosis, Jaundice, Hepatomegaly, Increased circulating IgA level, Hepatocellular carcinoma, Bil... ORPHA:186
C3 Glomerulopathy
Decreased circulating complement C3 concentration, C3 nephritic factor positivity, Recurrent infe... ORPHA:329918
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Decreased circulating antibody level OMIM:615872
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
X-Linked Immunoneurologic Disorder
Recurrent respiratory infections, Decreased circulating IgG2 level ORPHA:2571
Zika Virus Disease
Increased circulating IgM level, Thrombocytopenia ORPHA:448237
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Anemia, Decreased circulating IgG level, Recurrent pneumonia, Splenomegaly, Decreas... OMIM:612301
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Autoimmunity, Increased circulating antibody level, Systemic lupus erythema... ORPHA:48377
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Perianal abscess, Increased circulating IgG level, Increased circ... OMIM:618213
Acute Lung Injury
Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, A... ORPHA:178320
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Recurrent lower respiratory tract infections, Decreased cir... OMIM:617744
Nijmegen Breakage Syndrome-Like Disorder
Decreased circulating antibody level OMIM:613078
Lassa Fever
Increased circulating IgM level, Jaundice, Sepsis ORPHA:99824
Prolidase Deficiency
Hepatomegaly, Anemia, Increased circulating antibody level, Recurrent infections, Prolonged neona... OMIM:170100
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Increased circulating IgE level, Decreased FOXP3-expressing T cell count... OMIM:304790
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Leishmaniasis
Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Pancytopenia, Abnorm... ORPHA:507
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Decreased circulating antibody level, Leukopenia OMIM:615190
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level OMIM:215250
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Recurren... OMIM:243150
Immunodeficiency 56
Cirrhosis, Recurrent otitis media, Cholangitis, Panhypogammaglobulinemia, Recurrent infections, R... OMIM:615207
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Pyoderma, Lymphopenia, Recurrent bronchopulmonary infections, T... OMIM:242700
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Abnormal circulating renin, Hyperaldosteronism ORPHA:369929
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Abnormal pancreas morphology, Cholangitis, Increased circul... ORPHA:449432
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent otitis media, Pyoderma, Panhypogammaglobulinemia, Recurrent urinary tract infections, A... OMIM:307200
T-Cell Immunodeficiency With Thymic Aplasia
Chronic oral candidiasis, Recurrent candida infections, Sepsis, Recurrent Staphylococcus aureus i... ORPHA:83471
X-Linked Agammaglobulinemia
Sepsis, Anemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Recurrent pneumo... ORPHA:47
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Increased serum testosterone level, Adrenoco... ORPHA:90791
Hereditary Folate Malabsorption
Pancytopenia, Recurrent urinary tract infections, Megaloblastic anemia, Decreased circulating ant... ORPHA:90045
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Autoimmunity, Increased circulating IgE level, Leukocytosis ORPHA:2902
Maternal Uniparental Disomy Of Chromosome 6
Congenital adrenal hyperplasia, Increased serum testosterone level, Hydrocele testis ORPHA:96181
Iga Pemphigus
Increased circulating IgA level, Monoclonal elevation of circulating IgA, Autoimmune antibody pos... ORPHA:555905
Maternal Uniparental Disomy Of Chromosome 1
Recurrent infections, Hepatomegaly, Panhypogammaglobulinemia, Pancytopenia ORPHA:251009
Bloom Syndrome
Acute myeloid leukemia, Recurrent tonsillitis, Decreased proportion of CD4-positive T cells, Recu... ORPHA:125
Thymoma
Aplastic anemia, Decreased circulating antibody level, Abnormal lymphocyte physiology, Rheumatoid... ORPHA:99867
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Recurrent respiratory infections, Increased circulatin... OMIM:620565
Good Syndrome
Anemia, Mediastinal lymphadenopathy, Recurrent urinary tract infections, Abnormal leukocyte morph... ORPHA:169105
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Ataxia-Telangiectasia
Aplasia/Hypoplasia of the thymus, Recurrent respiratory infections, Decreased circulating antibod... ORPHA:100
Icf Syndrome
Anemia, Decreased circulating antibody level, Lymphopenia, Recurrent respiratory infections, Abno... ORPHA:2268
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Pyoderma Gangrenosum
Rheumatoid arthritis, Increased circulating antibody level, Myeloid leukemia ORPHA:48104
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Tularemia
Cervical lymphadenopathy, Anemia, Increased circulating antibody level, Mediastinal lymphadenopat... ORPHA:3392
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Increased circulating dehydroepiandrosterone-sulfate concentration, Elevated ... OMIM:201810
Lambert Syndrome
Jaundice, Decreased circulating antibody level, Cholestasis, Intrahepatic biliary atresia ORPHA:1296
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Sepsis, Neutropenia in presence of anti-neutropil antibodies, B lymp... ORPHA:231154
Mogs-Cdg
Hepatomegaly, Decreased circulating antibody level, Decreased circulating IgG level, Hepatospleno... ORPHA:79330
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Recurrent infections, Increased circulating IgE level OMIM:618985
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Accessory spleen, Recurrent infections, Portal hypertension, Decreased circulating IgG le... OMIM:620005
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Precocious puberty in males, Increased serum... OMIM:202010
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Adrenal hyperplasia, Decreased circulating cortisol level, ... ORPHA:90790
Immunodeficiency 82 With Systemic Inflammation
Recurrent abscess formation, Decreased circulating total IgG, Recurrent otitis media, Anemia, Lym... OMIM:619381
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Sepsis, Recurrent otitis media, Recurrent pharyngitis, Recurrent bronchitis, Abnormal lymphocyte ... ORPHA:293978
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Peeling Skin Syndrome 1
Eosinophilia, Increased circulating IgE level OMIM:270300
Alopecia Antibody Deficiency
Recurrent respiratory infections, Decreased circulating antibody level ORPHA:1006
Complement Component 5 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:609536
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Decr... ORPHA:508533
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Primary hyperparathyr... ORPHA:189427
Interstitial Lung Disease 2
Cirrhosis, Increased circulating antibody level OMIM:178500
Immunodeficiency 59 And Hypoglycemia
Sepsis, Hepatomegaly, Recurrent lower respiratory tract infections, Decreased proportion of class... OMIM:233600
Roifman Syndrome
Recurrent otitis media, Lymphadenopathy, Decreased circulating antibody level, Recurrent pneumoni... ORPHA:353298
Macrocephaly/Autism Syndrome
Recurrent otitis media, Hepatomegaly, Recurrent infections, Decreased circulating antibody level,... OMIM:605309
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Recurrent pneumonia, Recurrent upper respiratory tract infection... OMIM:607143
Autosomal Agammaglobulinemia
Sepsis, Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia, Hepatitis, Ne... ORPHA:33110
Netherton Syndrome
Sepsis, Increased circulating IgE level, Decreased circulating IgG level, Recurrent infection of ... OMIM:256500
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Increased urinary cortisol level, Adrenal hyperp... ORPHA:786
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy, Increased circulating IgA level, Increased circulating IgM level, Increased circ... ORPHA:79078
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent bronchiolitis, Increased circulating IgE level, Recurrent pneumonia OMIM:616069
Common Variable Immunodeficiency
Lymphadenopathy, Recurrent respiratory infections, Recurrent bronchitis, Decreased circulating an... ORPHA:1572
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Bloom Syndrome
Decreased circulating IgG level, Elevated hemoglobin A1c, Recurrent upper respiratory tract infec... OMIM:210900
Ebola Hemorrhagic Fever
Sepsis, Increased circulating antibody level, Acute pancreatitis, Thrombocytopenia, Leukopenia, L... ORPHA:319218
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... ORPHA:227990
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Sepsis, Anemia, Bone marrow hypocellularity, Increased circulating IgM level, Decreased circulati... ORPHA:505248
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in... OMIM:233710
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level, Bone marrow hypoce... ORPHA:381
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Lymphadenopathy, Decreased circulating antibody level, Recurrent pneumonia, Hepatosplenomegaly, M... OMIM:619750
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Decreased circulating inhibin B concentration, Abnormal response to human chorio... ORPHA:95699
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Decreased circulating antibody level, Anemia, Erythroid hypoplasia OMIM:618165
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Anemia, Iron deficiency anemia, Recurrent lower respiratory tract infections, Intes... OMIM:226300
Familial Hemophagocytic Lymphohistiocytosis
Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, I... ORPHA:540
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in... OMIM:233690
Sézary Syndrome
Hepatomegaly, Lymphadenopathy, Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Spl... ORPHA:3162
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Recurrent infections... OMIM:617591
Igg4-Related Thyroid Disease
Sclerosing cholangitis, Anti-thyroglobulin antibody positivity, Anti-thyroid peroxidase antibody ... ORPHA:64744
Brucellosis
Lung abscess, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Increased circulating IgG lev... ORPHA:1304
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... ORPHA:227982
Rift Valley Fever
Jaundice, Anemia, Increased circulating IgG level, Increased circulating IgM level, Thrombocytope... ORPHA:319251
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopen... OMIM:619313
Riddle Syndrome
Generalized lymphadenopathy, Decreased circulating IgG level, Recurrent viral infections, Recurre... ORPHA:420741
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Caffey Disease
Increased circulating antibody level ORPHA:1310
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Recurrent respiratory infections, Lymphopenia, Agammaglobulinemia, Abnormality of the pan... ORPHA:935
Multiple Myeloma
Anemia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgA level, Decrea... ORPHA:29073
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent infections, Cryoglobulinemia, Splenom... ORPHA:33226
Tick-Borne Encephalitis
Abnormal circulating cytokine concentration, Increased circulating IgG level, Leukocytosis, Incre... ORPHA:297
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Specific Granule Deficiency 2
Sepsis, Recurrent pneumonia, Recurrent bacterial infections, Recurrent otitis media OMIM:617475
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Insulin-Resistance Syndrome Type B
Increased circulating IgG level, Increased circulating IgA level, Decreased circulating complemen... ORPHA:2298
Immunodeficiency 76
B lymphocytopenia, Lymphopenia, Splenomegaly, T lymphocytopenia OMIM:619164
Pneumocystosis
Abnormal neutrophil count, Chronic oral candidiasis, Increased circulating antibody level ORPHA:723
Combined Immunodeficiency Due To Crac Channel Dysfunction
Sepsis, Meningitis, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent fun... ORPHA:169090
Q Fever
Anti-smooth muscle antibody positivity, Lupus anticoagulant, Increased circulating antibody level... ORPHA:781
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Recurrent infections, Decreased circulating antibody level, Lymphopenia, Eosinophilia, Hepatic cysts OMIM:617425
Complement Factor I Deficiency
Recurrent otitis media, Recurrent meningococcal disease, Recurrent urinary tract infections, Recu... OMIM:610984
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Siderobla... OMIM:616084
Rasmussen Subacute Encephalitis
Anti-dsDNA antibody positivity, Autoimmunity, Decreased circulating total IgA, Antinuclear antibo... ORPHA:1929
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Lupus anticoagulant, Anemia, Hepatomegaly, Pancytopenia, Recurrent infect... OMIM:615688
Hyper-Igd Syndrome
Chronic oral candidiasis, Lymphadenopathy, Recurrent infections, Increased circulating IgA level,... OMIM:260920
Ataxia-Telangiectasia
Recurrent lower respiratory tract infections, Recurrent bronchitis, Hypoplasia of the thymus, T l... OMIM:208900
Trichothiodystrophy 3, Photosensitive
Recurrent infections, Increased circulating IgA level, Neutropenia, Lymphopenia OMIM:616395
Xq28 (MECP2) duplication
Recurrent respiratory infections, Decreased circulating IgA level DECIPHER:45
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Recurrent bacterial infections OMIM:603585
Primary Sclerosing Cholangitis
Cirrhosis, Jaundice, Abnormal biliary tract morphology, Pancreatitis, Cholelithiasis, Hepatomegal... ORPHA:171
Immunodeficiency 58
Chronic mucocutaneous candidiasis, Decreased circulating antibody level, Decreased specific antib... OMIM:618131
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... OMIM:615518
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Portal hypertension, Hashimoto thyroiditis, Splenomegaly, Autoimmunit... OMIM:613385
Purine Nucleoside Phosphorylase Deficiency
Recurrent lower respiratory tract infections, Recurrent urinary tract infections, Impaired T cell... OMIM:613179
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Sepsis, Iron deficiency anemia, Anti-liver cytosolic antigen type 1 ... ORPHA:37042
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Japanese Encephalitis
Increased circulating IgM level, Neutrophilia, Increased circulating antibody level ORPHA:79139
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Anemia, Abnormal immunoglobulin level, Pancytopenia, Recurrent infect... OMIM:242900
Coccidioidomycosis
Pancreatitis, Mediastinal lymphadenopathy, Lymphadenopathy, Increased circulating IgG level, Gran... ORPHA:228123
Igg4-Related Kidney Disease
Decreased circulating complement C3 concentration, Pancreatitis, Lymphadenopathy, Increased circu... ORPHA:449395
Leukocyte Adhesion Deficiency, Type I
Recurrent infections, Chronic mucocutaneous candidiasis, Recurrent staphylococcal infections, Rec... OMIM:116920
Whim Syndrome
Sepsis, Decreased circulating antibody level, Lymphadenitis, Abnormal neutrophil morphology, Recu... ORPHA:51636
Papa Syndrome
Lymphadenopathy, Increased circulating antibody level ORPHA:69126
Macrophage Activation Syndrome
Increased circulating interferon-gamma concentration, Increased circulating interleukin 6 concent... ORPHA:158061
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Incr... ORPHA:96253
Autosomal Dominant Severe Congenital Neutropenia
Recurrent ear infections, Recurrent viral infections, Recurrent infection of the gastrointestinal... ORPHA:486
Netherton Syndrome
Recurrent infections, Increased circulating IgE level, Decreased circulating antibody level, Recu... ORPHA:634
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,... OMIM:313900
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM, Annular pancreas OMIM:618162
Omenn Syndrome
Anemia, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Severe B lymphocytopenia, T... OMIM:603554
Encephalitis Lethargica
Autoimmunity, Recurrent viral infections, Increased circulating antibody level ORPHA:83600
Granulomatous Disease, Chronic, X-Linked
Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in... OMIM:306400
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, Recurrent otitis media, B lymphocytopenia, Rec... OMIM:251260
Sweet Syndrome
Recurrent infections, Increased circulating interleukin 6 concentration, Abnormal circulating int... ORPHA:3243
Alg12-Cdg
Sepsis, Recurrent pharyngitis, Partial absence of specific antibody response to Haemophilus influ... ORPHA:79324
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Abnormality of the pancreas, Increased circulating antibody ... ORPHA:400
Leukocyte Adhesion Deficiency, Type Iii
Sepsis, Recurrent bacterial infections OMIM:612840
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating ACTH level, Neuroendocrine neoplasm, Pancreatic endocrine tumor, Pheochromo... ORPHA:99889
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections ORPHA:60033
Mevalonic Aciduria
Fluctuating splenomegaly, Anemia, Lymphadenopathy, Recurrent infections, Leukocytosis, Increased ... OMIM:610377
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Cirrhosis, Hepatomegaly, Pancytopenia, Rec... OMIM:614576
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abscess, Abnormal CD... OMIM:150550
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Reduction of neutrophil motility, Rectal abscess, Leukocytosis, Neutrophilia, ... OMIM:608203
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Recurrent infections, Eosinophilia, Increased circulating IgE level, Recurrent respiratory infect... ORPHA:2314
Igg4-Related Pachymeningitis
Pancreatitis, Lymphadenitis, Reduced circulating complement concentration, Increased circulating ... ORPHA:449427
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Crimean-Congo Hemorrhagic Fever
Jaundice, Hepatomegaly, Lymphadenopathy, Pancytopenia, Increased circulating IgG level, Acute pan... ORPHA:99827
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... ORPHA:86843
Gaucher Disease Type 1
Cirrhosis, Hepatomegaly, Anemia, Increased circulating antibody level, Cholelithiasis, Pancytopen... ORPHA:77259
Vici Syndrome
Recurrent infections, Decreased circulating IgG level, Recurrent respiratory infections, Decrease... ORPHA:1493
Vici Syndrome
Recurrent bacterial infections, Chronic mucocutaneous candidiasis, Cutaneous anergy, T lymphocyto... OMIM:242840
Yellow Fever
Jaundice, Increased circulating interleukin 6 concentration, Acute pancreatitis, Leukocytosis, In... ORPHA:99829
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Cholelithiasis, B lymphocytopenia, Pancreatic hypoplasia, Biliary hyperplasia, Seve... ORPHA:83617
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Hepatomegaly, Recurrent infections, Microvesicular hepatic steatosis, L... OMIM:618278
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Splenomegaly, Recurre... OMIM:248500
Gaucher Disease
Cirrhosis, Hepatomegaly, Anemia, Increased circulating antibody level, Cholelithiasis, Pancytopen... ORPHA:355
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level ORPHA:369837
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Cowden Syndrome 1
Recurrent infections, Decreased circulating antibody level, Lymphopenia OMIM:158350
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Impaired platelet aggregation, Decrea... ORPHA:79329
Igg4-Related Ophthalmic Disease
Pancreatitis, Cholangitis, Lymphadenopathy, Increased circulating IgE level, Increased circulatin... ORPHA:449563
Aspergillosis
Eosinophilia, Increased circulating IgE level, Hepatitis, Neutropenia ORPHA:1163
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Hermansky-Pudlak Syndrome 2
Recurrent abscess formation, Chronic oral candidiasis, Recurrent otitis media, Recurrent bacteria... OMIM:608233
Proteasome-Associated Autoinflammatory Syndrome 1
Recurrent otitis media, Increased circulating interleukin 6 concentration, Increased circulating ... OMIM:256040
Immunodeficiency 68
B lymphocytopenia, Abscess, Abnormal natural killer cell count, T lymphocytopenia OMIM:612260
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating antibody level, Decreased circulating IgA level, Hepatomegaly OMIM:606056
Alveolar Echinococcosis
Liver abscess, Anemia, Increased circulating antibody level, Jaundice, Cholangitis, Abnormal sple... ORPHA:284
Postinfectious Vasculitis
Severe cytomegalovirus infection, Recurrent candida infections, Persistent human papillomavirus i... ORPHA:48435
Primary Sjögren Syndrome
Decreased circulating complement C3 concentration, Normocytic anemia, Increased circulating antib... ORPHA:289390
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Recurrent infections, Perinuclear... OMIM:617718
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level, Hepatomegaly, Lymphadenopathy, Peritonitis ORPHA:343
Liver Failure, Infantile, Transient
Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steatosis, Decre... OMIM:613070
Lead Poisoning
Abnormal T cell morphology, Anemia, Increased circulating IgE level, Imbalanced hemoglobin synthe... ORPHA:330015
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Doors Syndrome
Adrenal hyperplasia, Congenital hypothyroidism ORPHA:79500
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Recurrent infections, Abnormal platelet function, Recur... ORPHA:167
Hypocomplementemic Urticarial Vasculitis
Meningitis, Recurrent bacterial infections ORPHA:36412
Lysinuric Protein Intolerance
Cirrhosis, Hepatomegaly, Anemia, Increased circulating antibody level, Hemophagocytosis, Pancreat... ORPHA:470
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Recurrent infections, Recurrent pneumonia, Splenomegaly, Decreased circulating IgA ... OMIM:613327
Syndromic Diarrhea
Cirrhosis, Hepatomegaly, Panhypogammaglobulinemia, Recurrent infections, Hypoplasia of the thymus... ORPHA:84064
Leukocyte Adhesion Deficiency Type Ii
Recurrent otitis media, Anemia, Hepatomegaly, Recurrent infections, Recurrent urinary tract infec... ORPHA:99843
Gaucher Disease Type 3
Hepatomegaly, Anemia, Increased circulating antibody level, Pancytopenia, Thrombocytopenia, Splen... ORPHA:77261
Say-Barber-Miller Syndrome
Abnormal T cell morphology, Decreased circulating antibody level, Transient hypogammaglobulinemia... ORPHA:3132
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia ORPHA:52368
Chediak-Higashi Syndrome
Recurrent infections, Recurrent systemic pyogenic infections, Impaired neutrophil bactericidal ac... OMIM:214500
Poems Syndrome
Hepatomegaly, Increased circulating antibody level, Lymphadenopathy, Polycythemia, Splenomegaly, ... ORPHA:2905
Congenital Analbuminemia
Recurrent lower respiratory tract infections, Increased circulating antibody level ORPHA:86816
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Recurrent infections, Sepsis, Decreased circulating antibody level, Anemia ORPHA:79396
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Increased circulating interleukin 6 concentration, Thrombocytosis, Iron deficie... OMIM:301074
Mirage Syndrome
Recurrent urinary tract infections, Sepsis, Recurrent bacterial infections OMIM:617053
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, B lymphocytopenia, Pancytopenia OMIM:620133
New-Onset Refractory Status Epilepticus
Abnormal circulating interleukin concentration, Infectious encephalitis ORPHA:363558
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Hennekam Syndrome
Lymphadenopathy, Decreased circulating antibody level, Lymphangioma, Splenomegaly, Pulmonary lymp... ORPHA:2136
Chromomycosis
Recurrent bacterial infections ORPHA:182
Patent Urachus
Recurrent urinary tract infections, Recurrent gram-negative bacterial infections ORPHA:431341
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration ORPHA:85435
Interstitial Cystitis
Abnormality of tumor necrosis factor secretion ORPHA:37202
Immunodeficiency 26 With Or Without Neurologic Abnormalities
B lymphocytopenia, Abnormal natural killer cell morphology, T lymphocytopenia OMIM:615966
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating cytokine concentration, Abnormal circulating interleukin concentration, Incr... ORPHA:542323
Celiac Disease, Susceptibility To, 1
Decreased circulating IgA level, Iron deficiency anemia, Thrombocytosis, Macrocytic anemia OMIM:212750
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Al Amyloidosis
Hepatomegaly, Anemia, Increased circulating antibody level, Howell-Jolly bodies, Abnormality of t... ORPHA:85443
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Abnormal circulating interleukin concentration, Persistent EBV viremia ORPHA:158057
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis OMIM:611812
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level, Recurrent respiratory infections OMIM:615508
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Neonatal sepsis, Recurrent lower respiratory tract infections, Recurrent urinary tract in... OMIM:612541
Leukocyte Adhesion Deficiency
Chronic oral candidiasis, Sepsis, Recurrent tonsillitis, Impaired platelet aggregation, Recurrent... ORPHA:2968
Primary Ciliary Dyskinesia
Recurrent otitis media, Recurrent mycobacterial infections, Recurrent sinopulmonary infections ORPHA:244
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Trichohepatoenteric Syndrome 1
Cirrhosis, Jaundice, Hepatomegaly, Decreased circulating antibody level, Cholestasis, Increased m... OMIM:222470
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Anemia, Increased circulating antibody level, Recurrent lower respiratory tract inf... OMIM:615846
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Thrombocytosis, Decreased circulating IgG level, Hepatic fibrosis, Decreased circul... OMIM:212065
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, B lymphocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Leukopenia, Thrombocyt... ORPHA:508542
Distal Deletion 19P
Decreased circulating antibody level ORPHA:96129
Oligoarticular Juvenile Idiopathic Arthritis
Increased circulating interferon-gamma concentration, Abnormal circulating interleukin concentration ORPHA:85410
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Recurrent infections, Neutropenia OMIM:258360
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Normochromic anemia,... ORPHA:91500
Scleromyxedema
Paraproteinemia ORPHA:167635
Dubowitz Syndrome
Aplastic anemia, Recurrent infections, Decreased circulating IgG level, Acute lymphoblastic leuke... OMIM:223370
Trichothiodystrophy 1, Photosensitive
Recurrent infections, Decreased circulating IgG level OMIM:601675
Trichothiodystrophy
Anemia, Panhypogammaglobulinemia, Increased mean corpuscular hemoglobin concentration, Recurrent ... ORPHA:33364
Shwachman-Diamond Syndrome
Sepsis, Bone marrow hypocellularity, Recurrent viral infections, Impaired neutrophil chemotaxis, ... ORPHA:811
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Chronic oral candidiasis, Recurrent Staphylococcus aureus infections, Increased circulating IgE l... OMIM:147060
Diarrhea 10, Protein-Losing Enteropathy Type
Decreased circulating antibody level, Recurrent upper respiratory tract infections OMIM:618183
Sickle Cell Disease
Recurrent bacterial infections OMIM:603903
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Recurrent bacterial infections OMIM:615895
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating antibody level, Decreased circulating IgA ... OMIM:617062
Ectodermal Dysplasia And Immunodeficiency 2
Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract, Defective pr... OMIM:612132
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal circulating interleukin concentration ORPHA:101096
Cartilage-Hair Hypoplasia
Hepatomegaly, Anemia, Decreased circulating antibody level, Abnormality of the pancreas, Neutropenia ORPHA:175
Immunodeficiency 87 And Autoimmunity
Severe cytomegalovirus infection, Sepsis, Persistent EBV viremia, Recurrent viral infections, Rec... OMIM:619573
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Jaundice, Anemia, Hepatomegaly, Decreased circulating antibody level, Cholestasis, Hepatosplenome... ORPHA:247598
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Mediastinal lymphadenopathy, Increased circulating antibody level, Pancytopenia, Sp... OMIM:181000
Cystic Fibrosis
Nontuberculous mycobacterial pulmonary infection, Recurrent Staphylococcus aureus infections, Rec... ORPHA:586
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Marburg Hemorrhagic Fever
Jaundice, Pancreatitis, Increased circulating antibody level, Lymphadenopathy, Neutrophilia in pr... ORPHA:99826
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Thrombocytopenia-Absent Radius Syndrome
Anemia, Decreased circulating antibody level, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia,... OMIM:274000
Glycogen Storage Disease Ib
Recurrent bacterial infections OMIM:232220
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion ORPHA:85436
Cysticercosis
Increased anti-parasite IgE antibody level, Increased circulating antibody level ORPHA:1560
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Viss Syndrome
Increased circulating IgG level, Hypereosinophilia, Increased circulating IgE level, Decreased ci... OMIM:619472
Intrahepatic Cholestasis Of Pregnancy
Abnormal circulating interleukin concentration ORPHA:69665
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Trichinellosis
Increased circulating IgE level ORPHA:863
Nk-Cell Enteropathy
Increased T cell count ORPHA:263665
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Recurrent bacterial infections ORPHA:79259
Tetraamelia Syndrome 1
Adrenal gland agenesis OMIM:273395
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis OMIM:236680
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion ORPHA:567983
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Increased circulating IgE level, Splenomegaly, Hepatoblastoma, Pancreatic islet-cel... ORPHA:373
Sponastrime Dysplasia
Recurrent pneumonia, Decreased circulating antibody level, Neutropenia ORPHA:93357
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibod... ORPHA:391487
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent infections, Recurrent respiratory infections, Recurrent bacterial infections ORPHA:2273
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Recurrent infections, Decreased circulating IgG level, Secretory IgA deficiency, Absent gallbladder ORPHA:500150
Sarcoidosis
Abnormal liver parenchyma morphology, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node ... ORPHA:797
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Recurrent infections, Decreased circulating antibody level, Recurrent otitis media, Asplenia ORPHA:261537
Mowat-Wilson Syndrome
Recurrent infections, Decreased circulating antibody level, Recurrent otitis media, Asplenia ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Recurrent infections, Decreased circulating antibody level, Recurrent otitis media, Asplenia ORPHA:261552
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections ORPHA:642

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Fcmr

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Fcmr.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
sIgM-FcμR Interactions Regulate Early B Cell Activation and Plasma Cell Development after Influenza Virus Infection. Journal of immunology (Baltimore, Md. : 1950) (July 2017) Fcmrtm1c(KOMP)Wtsi Fcmrtm1b(KOMP)Wtsi PMC5568459
The IgM receptor FcμR limits tonic BCR signaling by regulating expression of the IgM BCR. Nature immunology (January 2017) Fcmrtm1c(KOMP)Wtsi Fcmrtm1b(KOMP)Wtsi PMC5310993

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Fcmrtm45241(L1L2_st1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Fcmrtm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Fcmrtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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