Immunodeficiency 14B, Autosomal Recessive |
|
Monocytosis, B lymphocytopenia, Leukocytosis, Inflammation of the large intestine, Decreased circ... |
OMIM:619281 |
Immunodeficiency 15B |
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Chronic oral candidiasis, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, ... |
OMIM:615592 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
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Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... |
OMIM:616452 |
Immunodeficiency 105 |
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Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Skin... |
OMIM:619924 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphocytosis, Splenomegaly, De... |
OMIM:614470 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
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Recurrent otitis media, Lymphadenopathy, Increased circulating IgG level, Herpes simplex encephal... |
OMIM:618982 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m... |
OMIM:202700 |
Immunodeficiency 24 |
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Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... |
OMIM:615897 |
Persistent Polyclonal B-Cell Lymphocytosis |
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Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Splenomegaly |
OMIM:606445 |
Immunodeficiency 112 |
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Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... |
OMIM:620449 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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B lymphocytopenia, Monocytosis, Neutropenia |
OMIM:613107 |
Immunodeficiency 11A |
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Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr... |
OMIM:615206 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
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Acute myeloid leukemia, Monocytosis, Eczematoid dermatitis, Bone marrow hypocellularity, Leukopen... |
OMIM:616871 |
Immunodeficiency 18 |
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Defective T cell proliferation, Recurrent otitis media, Decreased circulating total IgM, Decrease... |
OMIM:615615 |
Adult Idiopathic Neutropenia |
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Recurrent aphthous stomatitis, Increased circulating IgM level, Lymphopenia, Monocytopenia, Monoc... |
ORPHA:2688 |
Immunodeficiency, Common Variable, 5 |
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Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count |
OMIM:613495 |
Neutropenia, Severe Congenital, 10, Autosomal Recessive |
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Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia |
OMIM:620534 |
Immunodeficiency, Common Variable, 3 |
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Recurrent otitis media, Decreased proportion of class-switched memory B cells, Chronic decreased ... |
OMIM:613493 |
Combined Immunodeficiency, X-Linked |
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Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... |
OMIM:312863 |
Immunodeficiency 52 |
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Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Decreased ci... |
OMIM:617514 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Hepatosplenomegaly, Incr... |
OMIM:615559 |
Immunodeficiency, Common Variable, 4 |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Caspase 8 Deficiency |
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Reduced CD95-induced lymphocyte apoptosis, Lymphadenopathy, Complete or near-complete absence of ... |
OMIM:607271 |
Immunodeficiency 50 |
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Eczematoid dermatitis, Decreased circulating antibody level, Neutropenia, Lymphopenia |
OMIM:300988 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism |
OMIM:183350 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
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Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... |
OMIM:615513 |
Immunodeficiency 62 |
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Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:618459 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
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Recurrent otitis media, Decreased circulating total IgM, Increased circulating interleukin 6 conc... |
OMIM:618944 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
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Recurrent otitis media, Abnormal immunoglobulin level, Absent peripheral lymph nodes in presence ... |
ORPHA:98813 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Splenomegaly, Decreased lymphocyte apoptosis, Increased circulating IgG level, Nephritis, Autoimm... |
OMIM:603909 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched mem... |
OMIM:607594 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... |
OMIM:606843 |
Agammaglobulinemia 2, Autosomal Recessive |
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Abnormal T cell morphology, Recurrent otitis media, Recurrent pneumonia, Decreased circulating to... |
OMIM:613500 |
Reticular Dysgenesis |
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Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu... |
OMIM:267500 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Recurrent otitis media, Decreased circulating IgG level, Recurrent pn... |
OMIM:613502 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... |
OMIM:618987 |
Immunodeficiency 97 With Autoinflammation |
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Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased... |
OMIM:619802 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Recurrent otitis media, Partial absence of specific antibody response to Haemophilus influenzae t... |
OMIM:618986 |
Agammaglobulinemia 10, Autosomal Dominant |
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Decreased circulating IgG level, Recurrent sinusitis, Transient neutropenia, Decreased circulatin... |
OMIM:619707 |
Severe Combined Immunodeficiency, X-Linked |
|
Chronic oral candidiasis, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutini... |
OMIM:300400 |
Immunodeficiency 48 |
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Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi... |
OMIM:269840 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Increased circulating antibody level, Plasmacytosis, Lymphopenia, Pn... |
OMIM:247800 |
Agammaglobulinemia 6, Autosomal Recessive |
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Abnormal T cell morphology, Recurrent otitis media, B lymphocytopenia, Decreased circulating IgG ... |
OMIM:612692 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Aplastic anemia, Dysgammaglobulinemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytope... |
OMIM:308240 |
Agammaglobulinemia 8A, Autosomal Dominant |
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B lymphocytopenia, Agammaglobulinemia, Recurrent otitis media |
OMIM:616941 |
Immunodeficiency 92 |
|
Hepatomegaly, Abnormal B cell proliferation, Cholangitis, Sclerosing cholangitis, Decreased propo... |
OMIM:619652 |
Immunodeficiency 64 With Lymphoproliferation |
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Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina... |
OMIM:618534 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
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Decreased specific antibody response to polysaccharide vaccine, Decreased specific anti-polysacch... |
ORPHA:70593 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Chronic oral candidiasis, Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportio... |
OMIM:212050 |
Immunodeficiency 15A |
|
Recurrent otitis media, Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candi... |
OMIM:618204 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... |
OMIM:617765 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia |
OMIM:233650 |
Neutropenia, Severe Congenital, X-Linked |
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Monocytopenia, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Autosomal Dominant Severe Congenital Neutropenia |
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Aplastic anemia, Acute myeloid leukemia, Recurrent aphthous stomatitis, Periodontitis, Acute lymp... |
ORPHA:486 |
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 78 With Autoimmunity And Developmental Delay |
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Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Lymphadenopathy, I... |
OMIM:619220 |
Immunodeficiency, Common Variable, 2 |
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Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Partial absence of specific antibody respo... |
OMIM:240500 |
Immunodeficiency 32B |
|
Hepatomegaly, Anemia, Monocytopenia, Bronchiectasis, Sinusitis, Abnormal circulating IgG level, N... |
OMIM:226990 |
Immunodeficiency 102 |
|
Recurrent sinusitis, Leukopenia, Increased proportion of CD8-positive, alpha-beta TEMRA T cells, ... |
OMIM:301082 |
Agammaglobulinemia 7, Autosomal Recessive |
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Abnormal T cell morphology, Panhypogammaglobulinemia, Erythema nodosum, Agammaglobulinemia, Reduc... |
OMIM:615214 |
Immunodeficiency 109 With Lymphoproliferation |
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Pancytopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine,... |
OMIM:620282 |
Immunodeficiency 95 |
|
Increased circulating IgG3 level, Decreased circulating IgG3 level, Recurrent viral pneumonia, Ly... |
OMIM:619773 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Decreased proportion of CD8-positive T cells, Increased circulating antibody level, Lymphadenopat... |
ORPHA:169154 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
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Lymphadenopathy, Decreased proportion of class-switched memory B cells, Decreased circulating ant... |
OMIM:619846 |
Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Decreased circulating IgA level |
OMIM:609529 |
Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Autoimmune hemolytic anemia, Recurrent otitis media, Decreased circulating total IgM, Increased c... |
OMIM:620430 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Recurrent otitis media, Absent isohemagglutinin level, Agammaglobulin... |
OMIM:613501 |
Immunodeficiency 21 |
|
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... |
OMIM:614172 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Furuncl... |
OMIM:618969 |
Agammaglobulinemia 8B, Autosomal Recessive |
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Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... |
OMIM:619824 |
Transcobalamin Deficiency |
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Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... |
ORPHA:859 |
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 91 And Hyperinflammation |
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Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Neutrophilia, Thrombocytopenia, Hepatosplenomega... |
OMIM:619644 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
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Autoimmune hemolytic anemia, Hepatomegaly, Minimal change glomerulonephritis, Myositis, Increased... |
OMIM:620565 |
Immunodeficiency 27A |
|
Anemia, Lymphadenopathy, Increased circulating IgG level, Salmonella osteomyelitis, Leukocytosis,... |
OMIM:209950 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,... |
OMIM:616636 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Decreased circulating I... |
OMIM:611926 |
Wiskott-Aldrich Syndrome 2 |
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Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Eczematoid dermatit... |
OMIM:614493 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating total IgM, Panniculitis, B lymphocytopenia, Optic neuritis, Decreased circu... |
OMIM:301081 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Decreased circulating total IgM, Increased circulating IgE level, Atopic dermatitis, C... |
OMIM:617638 |
Immunodeficiency 57 With Autoinflammation |
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Perianal abscess, Gastritis, B lymphocytopenia, Skin rash, Decreased circulating antibody level, ... |
OMIM:618108 |
Immunodeficiency, Common Variable, 11 |
|
Decreased proportion of class-switched memory B cells, Crohn's disease, Increased circulating IgE... |
OMIM:615767 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni... |
OMIM:618394 |
Immunodeficiency 81 |
|
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo... |
OMIM:619374 |
Immunodeficiency 85 And Autoimmunity |
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Decreased circulating total IgM, Decreased circulating IgE, T lymphocytopenia, Eczematoid dermati... |
OMIM:619510 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Increased circulating IgG level, Complete or near-complete absence o... |
OMIM:610163 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Splenomegaly, Abnorm... |
ORPHA:100024 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Crohn's disease, Arthritis, Decreased... |
OMIM:616100 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy, Impaired Ig class switch recombination, Decreased circulating IgG level, Increas... |
OMIM:608106 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Panhypogammaglobulinemia, B lymphocytopenia, Arthritis, T lymphocytopenia, Purulent rhinitis, Oti... |
OMIM:601457 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem... |
OMIM:601859 |
Immunodeficiency, Common Variable, 7 |
|
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific... |
OMIM:614699 |
Immunodeficiency 67 |
|
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... |
OMIM:607676 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Crohn's di... |
OMIM:619705 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... |
ORPHA:3261 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Autoimmune hemolytic anemia, Decreased circulating total IgM, Hepatomegaly, Abnormal natural kill... |
ORPHA:331206 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Increased circulating antibody level, Decreased proportion of CD3-posit... |
ORPHA:169160 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of CD3-positive T cells, Skin rash, Recurrent bacterial skin infections, Lym... |
ORPHA:276 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Complete or near-complete absence of specific antibody response to tetanus vaccine,... |
OMIM:613496 |
Immunodeficiency 76 |
|
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Splenomegaly, Lymphop... |
OMIM:619164 |
Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... |
OMIM:616005 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased proportion of CD8-positive T cel... |
ORPHA:911 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... |
OMIM:617241 |
Immunodeficiency 37 |
|
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... |
OMIM:616098 |
Immunodeficiency 96 |
|
Defective T cell proliferation, Recurrent otitis media, Decreased circulating total IgM, Increase... |
OMIM:619774 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy, Impaired Ig class switch recombination, Complete or near-complete absence of spe... |
OMIM:605258 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Increased cir... |
OMIM:618495 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Cernunnos-Xlf Deficiency |
|
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope... |
ORPHA:169079 |
Activated Pi3K-Delta Syndrome |
|
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, ... |
ORPHA:397596 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... |
OMIM:308230 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating total IgM, Chronic mucocutaneous candidiasis, Increased circulating IgE lev... |
OMIM:619752 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Chronic oral candidiasis, Acute otitis media, Impaired lymphocyte transformation with phytohemagg... |
ORPHA:35078 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis, Hepatic steatosis, Decreased circulating complement C3 concentration |
ORPHA:79087 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Decreased ci... |
ORPHA:436159 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp... |
OMIM:614700 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Neutropenia, Recurrent aphthous stomatitis, Lymphadenopathy, B lymphocy... |
OMIM:150550 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Reduced delayed hypersensitivity, Pyoderma, Aplasia of the thymus, T lymphocytopenia, Eczematoid ... |
OMIM:242700 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Neutrophilic infiltration of the skin, B lymphocytopenia, Skin rash, Increased c... |
OMIM:618048 |
Immunodeficiency 13 |
|
Recurrent otitis media, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positiv... |
OMIM:615518 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hepatomegaly, Hemo... |
OMIM:301078 |
Immunodeficiency, Common Variable, 13 |
|
B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level, Pancytopenia |
OMIM:616873 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Enterocol... |
OMIM:614878 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating total IgM, Hepatomegaly, Decreased circulating IgG level, Leukopenia, Splen... |
OMIM:620210 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Absent periph... |
OMIM:600802 |
Immunodeficiency 61 |
|
Recurrent otitis media, Decreased circulating IgG4 level, Recurrent sinusitis, Decreased circulat... |
OMIM:300310 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Panniculitis, Hypoplasia of the thy... |
OMIM:612541 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Chronic otitis media, B lymphocytopenia, Increased circulating IgE level, Recurrent bacterial ski... |
ORPHA:217390 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Pneumonia, Hepatomegaly, Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia, Incr... |
OMIM:602450 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Eczematoid dermatitis, Thrombocytopenia, Agammaglobulinemia, Absent circul... |
OMIM:619693 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
B lymphocytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Pneumon... |
OMIM:614069 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Increased circulating IgG3 level, Recurrent otitis media, Hepatomega... |
OMIM:612783 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Chronic oral candidiasis, Recurrent otitis media, Sterile abscess, Chronic mucocutaneous candidia... |
OMIM:618282 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased specific anti-polysaccharide ant... |
OMIM:606367 |
Immunodeficiency 43 |
|
Lung abscess, B lymphocytopenia, Bronchiectasis, Decreased circulating IgG level, Abnormal circul... |
OMIM:241600 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Autoimmune hemolytic anemia, Acute otitis media, Sclerosing cholangitis, Pancytopenia, Panhypogam... |
ORPHA:572 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Skin rash, Sinusitis, Splenomegaly, Lymphopenia, Aplasia of the thymus, Decreased circulating IgG... |
OMIM:102700 |
Agammaglobulinemia, X-Linked |
|
Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Lymph node hypoplasia, Neutrop... |
OMIM:300755 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... |
ORPHA:231154 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Chronic oral candidiasis, Recurrent aphthous stomatitis, Decreased proportion of CD3-positive T c... |
ORPHA:275 |
Immunodeficiency 68 |
|
Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Septic a... |
OMIM:612260 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... |
ORPHA:86843 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Lymphadenopathy, Lymphocytosis, Thyroiditis, Skin rash, Interstitial pneumonitis, Pu... |
ORPHA:139402 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Cholestasis, Increased T cell count, Splenomegaly, Jaundice, Increased circulating interleukin 6 ... |
OMIM:620376 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 23 concentration, Hypochromic microcytic anemia, Reduced circulat... |
OMIM:619632 |
Pgm3-Cdg |
|
Chronic otitis media, Decreased proportion of CD3-positive T cells, Reduced antigen-specific T ce... |
ORPHA:443811 |
Immunodeficiency 22 |
|
Chronic oral candidiasis, Anemia, Panniculitis, Decreased circulating IgE, Pericarditis, Decrease... |
OMIM:615758 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent otitis media, Panhypogammaglobulinemia, Rectal abscess, B lymphocytopenia, Decreased ci... |
OMIM:601495 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent otitis media, Decreased circulating total IgM, Sclerosing cholangitis, Increased circul... |
OMIM:243700 |
Immunodeficiency 9 |
|
Recurrent aphthous stomatitis, Abnormal natural killer cell count, Stomatitis, Hypoplasia of the ... |
OMIM:612782 |
Boutonneuse Fever |
|
Lymphadenopathy, Increased circulating IgG level, Skin rash, Increased circulating IgM level, Thr... |
ORPHA:83313 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Increased circulating interleukin 6 concentration, Thrombocytosis, Iron deficie... |
OMIM:301074 |
Selective Igm Deficiency |
|
Decreased proportion of CD3-positive T cells, Crohn's disease, Decreased proportion of transition... |
ORPHA:331235 |
Diffuse Cutaneous Mastocytosis |
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Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the liv... |
ORPHA:79456 |
Autoinflammation With Arthritis And Dyskeratosis |
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Autoimmune hemolytic anemia, Hepatomegaly, Increased circulating IgG level, Thyroiditis, Increase... |
OMIM:617388 |
Acute Monoblastic/Monocytic Leukemia |
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Cervical lymphadenopathy, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochro... |
ORPHA:514 |
Sting-Associated Vasculopathy, Infantile-Onset |
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Anemia, Malar rash, Myositis, Skin rash, Increased circulating IgG level, Increased circulating I... |
OMIM:615934 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
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Pneumonia, T lymphocytopenia, Sinusitis, Increased circulating IgM level, Bronchiectasis, Reduced... |
OMIM:242860 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
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Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level |
OMIM:215250 |
Primary Intestinal Lymphangiectasia |
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Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ... |
ORPHA:90362 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Skin rash, Inflammation of the la... |
OMIM:617718 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Perianal abscess, Defective T cell proliferation, Pancolitis, Increased circulating IgG level, In... |
OMIM:618213 |
Autoimmune Hepatitis |
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Cirrhosis, Jaundice, Increased circulating antibody level, Sclerosing cholangitis, Acute hepatiti... |
ORPHA:2137 |
Immunodeficiency 23 |
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Increased circulating IgG level, Chronic mucocutaneous candidiasis, Increased circulating IgE lev... |
OMIM:615816 |
Wiskott-Aldrich Syndrome |
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Impaired lymphocyte transformation with phytohemagglutinin, Recurrent sinusitis, Lymphopenia, Inf... |
OMIM:301000 |
Onychotrichodysplasia And Neutropenia |
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Lymphocytosis, Chronic neutropenia, Chronic irritative conjunctivitis, Neutropenia |
OMIM:258360 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
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Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Recurrent tons... |
ORPHA:183675 |
Transcobalamin Ii Deficiency |
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Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, D... |
OMIM:275350 |
Immunodeficiency 82 With Systemic Inflammation |
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Crohn's disease, Skin rash, T lymphocytopenia, Splenomegaly, Decreased circulating total IgA, Red... |
OMIM:619381 |
Brucellosis |
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Granuloma, Pericarditis, Leukopenia, Splenomegaly, Anterior uveitis, Myocarditis, Increased circu... |
ORPHA:1304 |
Ataxia-Telangiectasia |
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Hypoplasia of the thymus, T lymphocytopenia, Sinusitis, Decreased circulating IgG level, Acute ly... |
OMIM:208900 |
Immunodeficiency 47 |
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Decreased circulating total IgG, Normocytic anemia, Cirrhosis, Hepatomegaly, Accessory spleen, Ch... |
OMIM:300972 |
Wolcott-Rallison Syndrome |
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Hepatomegaly, Jaundice, Iron deficiency anemia, Lymphocytosis, Exocrine pancreatic insufficiency,... |
ORPHA:1667 |
Igg4-Related Submandibular Gland Disease |
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Prostatitis, Increased circulating antibody level, Cholangitis, Abnormal pancreas morphology, Inc... |
ORPHA:449432 |
Kikuchi-Fujimoto Disease |
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Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Lymphocytosis... |
ORPHA:50918 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Cholestatic liver disease, Cirrhosis, Sclerosing cholangitis, Increased circulating IgG level, In... |
ORPHA:562639 |
Igg4-Related Kidney Disease |
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Sclerosing cholangitis, Pericarditis, Increased circulating IgG4 level, Cholecystitis, Urinary bl... |
ORPHA:449395 |
Liver Disease, Severe Congenital |
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Lymphocytosis, Biliary hyperplasia, Leukopenia, Splenomegaly, Hepatic steatosis, Jaundice, Intrah... |
OMIM:619991 |