Complement Component 4, Partial Deficiency Of |
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Systemic lupus erythematosus |
OMIM:120790 |
Autoimmune Disease |
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Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Pemphigus Vulgaris, Familial |
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Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Hashimoto Thyroiditis |
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Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
Tn Polyagglutination Syndrome |
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Autoimmunity |
OMIM:300622 |
Immunodeficiency 24 |
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Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... |
OMIM:615897 |
Immunodeficiency, Common Variable, 5 |
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Chronic decreased circulating total IgG, Antinuclear antibody positivity, Abnormal T cell count, ... |
OMIM:613495 |
Complement Component 8 Deficiency, Type I |
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Systemic lupus erythematosus |
OMIM:613790 |
Monocyte Chemotactic Disorder |
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Cutaneous anergy |
OMIM:252250 |
Lupus Erythematosus Tumidus |
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Anti-dsDNA antibody positivity, Anti-La/SS-B antibody positivity, Autoimmune antibody positivity,... |
ORPHA:90283 |
Immunoglobulin A Deficiency 2 |
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Autoimmunity, Abnormal lymphocyte morphology, Decreased circulating IgA level |
OMIM:609529 |
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 |
Systemic Lupus Erythematosus 16 |
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Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Perinuclear antineutrophil antib... |
OMIM:614420 |
Reticular Dysgenesis |
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Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu... |
OMIM:267500 |
Retinal Telangiectasia And Hypogammaglobulinemia |
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Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Autoimmune Lymphoproliferative Syndrome |
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Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Anti-smooth muscle antibody positi... |
OMIM:601859 |
Immune Thrombocytopenia |
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Platelet antibody positive |
OMIM:188030 |
Immunodeficiency 18 |
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Defective T cell proliferation, Decreased circulating total IgM, Decreased proportion of CD3-posi... |
OMIM:615615 |
Immunodeficiency 11A |
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Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr... |
OMIM:615206 |
Complement Component C1S Deficiency |
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Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
C1Q Deficiency 1 |
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Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Autoimmunity, Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin... |
OMIM:617006 |
Complement Component 2 Deficiency |
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Systemic lupus erythematosus |
OMIM:217000 |
Wiskott-Aldrich Syndrome 2 |
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Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... |
OMIM:614493 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
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Abnormality of T cell physiology |
OMIM:308220 |
Immunodeficiency 64 With Lymphoproliferation |
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Autoimmune hemolytic anemia, Defective T cell proliferation, Increased circulating IgG level, Inc... |
OMIM:618534 |
Immunodeficiency 52 |
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Defective T cell proliferation, Abnormal natural killer cell count, Decreased circulating antibod... |
OMIM:617514 |
Caspase 8 Deficiency |
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Reduced CD95-induced lymphocyte apoptosis, Complete or near-complete absence of specific antibody... |
OMIM:607271 |
Cernunnos-Xlf Deficiency |
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Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope... |
ORPHA:169079 |
Immunodeficiency 81 |
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Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo... |
OMIM:619374 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Increased circulating antibody level, Pancytopenia, Lymphocytosis, Splenomegaly, Decreased lympho... |
OMIM:614470 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Splenomegaly, Decreased lymphocyte apoptosis, Anti-smooth muscle antibody positivity, Increased c... |
OMIM:603909 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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B lymphocytopenia, Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, A... |
ORPHA:277 |
Persistent Polyclonal B-Cell Lymphocytosis |
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Lymphocytosis, Decreased circulating total IgM, 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 |
Candidiasis, Familial, 1 |
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Cutaneous anergy |
OMIM:114580 |
Immunodeficiency, Common Variable, 4 |
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Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia |
OMIM:233650 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Autoimmune hemolytic anemia, Systemic lupus erythematosus, Splenomegaly, Lymphopenia, Autoimmunit... |
ORPHA:444463 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... |
OMIM:300853 |
Immunodeficiency, Common Variable, 2 |
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Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Abnormal T ce... |
OMIM:240500 |
Immunodeficiency 25 |
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Autoimmune hemolytic anemia, Anti-smooth muscle antibody positivity, Increased circulating IgG le... |
OMIM:610163 |
Immunoglobulin A Deficiency 1 |
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Autoimmunity, Decreased circulating IgA level |
OMIM:137100 |
Immunodeficiency, Common Variable, 1 |
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Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutropenia in presence... |
OMIM:607594 |
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, Common Variable, 3 |
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Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, A... |
OMIM:613493 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... |
OMIM:606843 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... |
OMIM:617241 |
Griscelli Syndrome, Type 2 |
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Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis |
OMIM:607624 |
Eosinophilopenia |
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Autoimmunity, Decreased eosinophil count |
OMIM:131430 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
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Acute myeloid leukemia, Refractory anemia, Bone marrow hypocellularity, Leukopenia, Systemic lupu... |
OMIM:616871 |
Insulin Autoimmune Syndrome |
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Autoimmunity, Autoimmune antibody positivity, Increased circulating antibody level, Systemic lupu... |
ORPHA:411593 |
Unclassified Myelodysplastic Syndrome |
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Autoimmunity, Bone marrow hypocellularity, Leukocytosis, Acute myeloid leukemia |
ORPHA:98827 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Autoimmune hemolytic anemia, Decreased circulating total IgM, Abnormal natural killer cell count,... |
ORPHA:331206 |
Diabetes Mellitus, Ketosis-Prone |
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Autoimmunity |
OMIM:612227 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... |
ORPHA:231154 |
Immunodeficiency 36 With Lymphoproliferation |
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Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... |
OMIM:616005 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Autoimmune hemolytic anemia, Absent isohemagglutinin level, Increased circulating antibody level,... |
OMIM:615559 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
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Decreased proportion of class-switched memory B cells, Anti-dsDNA antibody positivity, Anti-U1 ri... |
OMIM:619375 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
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Autoimmune hemolytic anemia, Increased circulating IgG level, Splenomegaly, Autoimmunity, Decreas... |
OMIM:618495 |
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, Decreased pro... |
ORPHA:169154 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Autoimmune hemolytic anemia, Panhypogammaglobulinemia, Pancytopenia, Neutropenia in presence of a... |
ORPHA:572 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
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Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... |
OMIM:617780 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
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Abnormal immunoglobulin level, Increased circulating IgG level, Increased circulating IgE level, ... |
ORPHA:98813 |
Lymphoproliferative Syndrome 1 |
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Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Pancytopenia, Decreased circulating antibo... |
OMIM:613011 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemia, Cutaneous a... |
OMIM:600802 |
Immunodeficiency 96 |
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Defective T cell proliferation, Decreased circulating total IgM, Increased mean corpuscular volum... |
OMIM:619774 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
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Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Hashimoto thyroidi... |
ORPHA:275 |
Immunodeficiency 67 |
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Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... |
OMIM:607676 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Reduced delayed hypersensitivity, Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, L... |
OMIM:242700 |
Igg4-Related Aortitis |
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Increased circulating antibody level, Increased circulating IgE level, Increased circulating IgG4... |
ORPHA:449400 |
Immunodeficiency 22 |
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Anemia, Decreased circulating IgE, Autoimmunity, Decreased circulating IgG level, Decreased propo... |
OMIM:615758 |
Pemphigus Erythematosus |
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Anti-acetylcholine receptor antibody positivity, Autoimmunity, Antinuclear antibody positivity, S... |
ORPHA:79480 |
Subcorneal Pustular Dermatosis |
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Rheumatoid arthritis, Autoimmunity, Increased circulating antibody level, Systemic lupus erythema... |
ORPHA:48377 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Lack of T cell fun... |
ORPHA:35078 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Dysgammaglobulinemia, Decreased circulating IgE, Impaired Ig class switch recombination, Impaired... |
OMIM:308230 |
Sjogren Syndrome |
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Rheumatoid arthritis, Autoimmunity |
OMIM:270150 |
Diffuse Alveolar Hemorrhage |
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Anemia, Antiphospholipid antibody positivity, Leukocytosis, Rheumatoid factor positive, Antinucle... |
ORPHA:90060 |
Autoimmune Lymphoproliferative Syndrome |
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Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... |
ORPHA:3261 |
Pgm3-Cdg |
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Autoimmunity, Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutr... |
ORPHA:443811 |
Thymoma |
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Aplastic anemia, Abnormal lymphocyte physiology, Decreased circulating antibody level, Rheumatoid... |
ORPHA:99867 |
Purine Nucleoside Phosphorylase Deficiency |
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Abnormal T cell morphology, Autoimmune hemolytic anemia, Systemic lupus erythematosus, Decreased ... |
ORPHA:760 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
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Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Decreased circ... |
OMIM:615952 |
Orotic Aciduria |
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Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... |
OMIM:258900 |
Purine Nucleoside Phosphorylase Deficiency |
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Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Impaired T cel... |
OMIM:613179 |
Gamma-Heavy Chain Disease |
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Autoimmune hemolytic anemia, Anemia, Abnormal lymphocyte morphology, Rheumatoid arthritis, Thromb... |
ORPHA:100026 |
Wiskott-Aldrich Syndrome |
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Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Decreased cir... |
OMIM:301000 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Decreased proportion of naive T cells, T lymphocytopenia, Coombs-positive hemolytic anemia, Aplas... |
ORPHA:83471 |
Schimke Immuno-Osseous Dysplasia |
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Anemia, Abnormal proportion of naive CD4 T cells, Abnormal lymphocyte physiology, Impaired T cell... |
ORPHA:1830 |
Bare Lymphocyte Syndrome, Type Ii |
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Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia |
OMIM:209920 |
Autoimmune Polyendocrinopathy Type 4 |
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Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... |
ORPHA:227990 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Perianal abscess, Defective T cell proliferation, Increased circulating IgG level, Increased circ... |
OMIM:618213 |
Obesity Due To Congenital Leptin Deficiency |
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Decreased proportion of CD4-positive helper T cells, Decreased T cell activation |
ORPHA:66628 |
Autoimmune Polyendocrinopathy Type 3 |
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Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... |
ORPHA:227982 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Decreased proportion of CD4-positive helper T cells, Decreased T cell activation |
ORPHA:179494 |
Hereditary Orotic Aciduria |
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Anemia, Splenomegaly, Impaired T cell function |
ORPHA:30 |
Congenital Disorder Of Glycosylation, Type Iil |
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Decreased specific anti-polysaccharide antibody level, Pancytopenia, Impaired T cell function, Th... |
OMIM:614576 |
Vici Syndrome |
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Cutaneous anergy, T lymphocytopenia, Decreased circulating IgG level, Decreased proportion of CD4... |
OMIM:242840 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
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Splenomegaly, Impaired T cell function |
OMIM:201100 |
Immunodeficiency 58 |
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Decreased circulating antibody level, Decreased specific antibody response to vaccination, Recurr... |
OMIM:618131 |
Sarcoidosis, Susceptibility To, 1 |
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Abnormality of T cell physiology, Increased circulating antibody level, Splenomegaly, Pancytopenia |
OMIM:181000 |
Velocardiofacial Syndrome |
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Impaired T cell function |
OMIM:192430 |
22Q11.2 Deletion Syndrome |
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Hypoplasia of the thymus, Impaired T cell function, Thrombocytopenia, Splenomegaly, Autoimmunity |
ORPHA:567 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Abnormality of T cell physiology |
ORPHA:2237 |
Progeroid Short Stature With Pigmented Nevi |
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Impaired T cell function |
OMIM:176690 |
Digeorge Syndrome |
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Anemia, Hypoplasia of the thymus, Impaired T cell function, Thrombocytopenia, Splenomegaly |
OMIM:188400 |