Combined Immunodeficiency, X-Linked |
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Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... |
OMIM:312863 |
Immunodeficiency 15A |
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Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... |
OMIM:618204 |
Immunodeficiency 24 |
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Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... |
OMIM:615897 |
Wiskott-Aldrich Syndrome 2 |
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Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Immunodeficiency 116 |
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Absence of CD8-positive T cells |
OMIM:608957 |
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
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Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Immunodeficiency 48 |
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Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation... |
OMIM:269840 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
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Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... |
OMIM:611926 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
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T lymphocytopenia |
ORPHA:169095 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism |
OMIM:183350 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Increased circulat... |
ORPHA:169154 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Decreased proporti... |
OMIM:617241 |
Immunodeficiency 97 With Autoinflammation |
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Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Decrease... |
OMIM:619802 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
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T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Immunodeficiency 105 |
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Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Hepatosplenomega... |
OMIM:619924 |
Immunodeficiency 18 |
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Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... |
OMIM:615615 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Decreased specific anti-polysaccharide antibody level, Lymphoma, Decreased CD4:CD8 ratio, Decreas... |
OMIM:300853 |
Immunodeficiency 102 |
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Decreased circulating IgG level, Reduced natural killer cell count, Verrucae, Increased proportio... |
OMIM:301082 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... |
OMIM:212050 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
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T lymphocytopenia |
DECIPHER:16 |
Immunodeficiency 112 |
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Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... |
OMIM:620449 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
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Squamous cell carcinoma of the skin, Lymphopenia, Verrucae, T lymphocytopenia |
OMIM:618309 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
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Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Immunodeficiency 52 |
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Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea... |
OMIM:617514 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
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Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... |
OMIM:615513 |
Immunodeficiency 11A |
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Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Decrease... |
OMIM:615206 |
Immunodeficiency 76 |
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Lymphopenia, Splenomegaly, B-cell lymphoma, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Lymphoma, Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic ... |
ORPHA:911 |
Immunodeficiency 70 |
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Verrucae, Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B... |
OMIM:618969 |
Immunodeficiency 17 |
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Abnormal B cell morphology, Decreased proportion of CD8-positive T cells, Chronic decreased circu... |
OMIM:615607 |
Immunodeficiency 13 |
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Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... |
OMIM:615518 |
Progressive Multifocal Leukoencephalopathy |
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Decreased proportion of CD8-positive T cells, Hematological neoplasm, Abnormal proportion of CD4-... |
ORPHA:217260 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
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Burkitt lymphoma, Increased proportion of exhausted T cells, Disseminated cutaneous warts |
OMIM:618307 |
Selective Igm Deficiency |
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Verrucae, Decreased proportion of transitional B cells, Cutaneous abscess, Decreased proportion o... |
ORPHA:331235 |
Lymphoproliferative Syndrome 1 |
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Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... |
OMIM:613011 |
Immunodeficiency 85 And Autoimmunity |
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Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... |
OMIM:619510 |
Aicardi-Goutieres Syndrome 6 |
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Increased circulating Interferon-alpha concentration, Hemolytic anemia, Splenomegaly, Thrombocyto... |
OMIM:615010 |
Immunodeficiency 57 With Autoinflammation |
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Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618108 |
Wiskott-Aldrich Syndrome |
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Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Decreased ... |
OMIM:301000 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na... |
ORPHA:276 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Decreased circulating IgG level, Capillary hemangioma, Decreased proportion of CD8-positive T cel... |
ORPHA:508533 |
Autoimmune Lymphoproliferative Syndrome |
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Neoplasm of the skin, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased prop... |
ORPHA:3261 |
Aregenerative Anemia |
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Abnormal circulating interleukin concentration, Pancytopenia, Decreased proportion of CD4-positiv... |
ORPHA:101096 |
Macrophage Activation Syndrome |
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Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:158061 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Panhypoga... |
ORPHA:79124 |
Pgm3-Cdg |
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Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous abscess, Lymphoma, Increased... |
ORPHA:443811 |
Bloom Syndrome |
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Neoplasm of the skin, Decreased circulating IgG level, Lymphoma, Malignant genitourinary tract tu... |
ORPHA:125 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, Abnormal circulating interferon-gam... |
ORPHA:391487 |
Infection-Related Hemolytic Uremic Syndrome |
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Abnormal circulating chemokine concentration, Brain abscess, Leukocytosis, Thrombocytopenia, Incr... |
ORPHA:544482 |