T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... |
ORPHA:276 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Splenomegaly, Recurr... |
OMIM:602450 |
Histiocytosis, Familial Lipochrome |
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Recurrent infections, Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Purine Nucleoside Phosphorylase Deficiency |
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Autoimmune hemolytic anemia, Recurrent urinary tract infections, Sinusitis, Impaired T cell funct... |
OMIM:613179 |
Agammaglobulinemia, X-Linked |
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Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ... |
OMIM:300755 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... |
OMIM:300853 |
Immunodeficiency 104 |
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Eczema, Pneumonia, Splenomegaly, Recurrent opportunistic infections, Chronic mucocutaneous candid... |
OMIM:608971 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
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Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... |
OMIM:615513 |
Immunodeficiency 75 With Lymphoproliferation |
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Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Decreased proportion of... |
OMIM:619126 |
Immunodeficiency 52 |
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Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... |
OMIM:617514 |
Benign Cephalic Histiocytosis |
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Inflammatory abnormality of the skin, Skin rash, Histiocytosis |
ORPHA:157997 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Abnormal B cell count, Meningitis, Increased circulating IgE level, Hypereosinophilia, Chronic ti... |
OMIM:212050 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
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Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomeg... |
OMIM:619220 |
Lymphoproliferative Syndrome 3 |
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Severe varicella zoster infection, Recurrent infections, Lymphadenopathy, Hepatosplenomegaly, Dec... |
OMIM:618261 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
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Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Recurrent infection... |
OMIM:618982 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
Neutropenia-Monocytopenia-Deafness Syndrome |
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Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
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Recurrent sinopulmonary infections, Absent specific antibody response, Decreased proportion of CD... |
OMIM:619846 |
Griscelli Syndrome, Type 2 |
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Recurrent bacterial infections, Hemophagocytosis, Reduced delayed hypersensitivity, Hepatosplenom... |
OMIM:607624 |
Lymphoproliferative Syndrome, X-Linked, 2 |
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Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections,... |
OMIM:300635 |
Lymphoproliferative Syndrome 2 |
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Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Recurrent pneumon... |
OMIM:615122 |
Immunodeficiency With Hyper-Igm, Type 4 |
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Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... |
OMIM:608184 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Recurrent respiratory infections, Cervical lymphadenopathy, Decreased circulating total IgM, B ly... |
OMIM:618987 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
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Splenomegaly, Thrombocytopenia, Recurrent upper respiratory tract infections, Hepatosplenomegaly,... |
OMIM:613101 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Fo... |
OMIM:614470 |
Ataxia-Pancytopenia Syndrome |
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Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... |
ORPHA:2585 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal center, Recurrent... |
ORPHA:277 |
Immunodeficiency, Common Variable, 1 |
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Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence o... |
OMIM:607594 |
Immunodeficiency 76 |
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Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia... |
OMIM:619164 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Recurrent respiratory infections, Impaired Ig class switch recombination, Lymphadenopathy, Recurr... |
OMIM:605258 |
Immunodeficiency 64 With Lymphoproliferation |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Caspase 8 Deficiency |
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Decreased circulating IgG level, Recurrent sinopulmonary infections, Recurrent herpes, Complete o... |
OMIM:607271 |
Meige Disease |
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Recurrent bacterial skin infections, Recurrent skin infections, Lymph node hypoplasia, Absence of... |
ORPHA:90186 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
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Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... |
OMIM:150550 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced na... |
OMIM:308240 |
Immunodeficiency 32A |
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Lymphadenitis, BCGitis, Lymphadenopathy, Recurrent infections, Granuloma |
OMIM:614893 |
Immunodeficiency 97 With Autoinflammation |
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Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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Chronic oral candidiasis, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenome... |
OMIM:301078 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Generalized lymphadenopathy, Severe varicella zoster infection, Lymphadenitis, Sepsis, Leukopenia... |
OMIM:618986 |
Immunodeficiency, Common Variable, 2 |
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Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectas... |
OMIM:240500 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... |
ORPHA:911 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
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Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Recurrent viral infections, Recurrent candida infections, T lymphocytopenia, Increased circulatin... |
ORPHA:169154 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
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Recurrent respiratory infections, Autoimmune hemolytic anemia, Recurrent urinary tract infections... |
OMIM:618495 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit... |
OMIM:233710 |
Immunodeficiency 105 |
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Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Generalized Eruptive Histiocytosis |
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Maculopapular exanthema, Hypereosinophilia, Lymphadenopathy, Leukemia, Histiocytosis |
ORPHA:157991 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit... |
OMIM:233690 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Decreased circulating IgG level, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform de... |
OMIM:616100 |
Immunodeficiency 27A |
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Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymph... |
OMIM:209950 |
Immunodeficiency 7 |
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Recurrent respiratory infections, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenome... |
OMIM:615387 |
Selective Igm Deficiency |
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Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Severe varicella zoster infecti... |
ORPHA:331235 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Decreased proportion of naive T cells, Sinusitis, Sepsis, Recurrent candida infections, T lymphoc... |
ORPHA:83471 |
Leukocyte Adhesion Deficiency, Type Iii |
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Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis, Sepsis, Hepa... |
OMIM:612840 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
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Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... |
ORPHA:436159 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Perianal abscess, Splenomegaly, Lymphadeni... |
OMIM:618935 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... |
OMIM:308230 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... |
OMIM:600802 |
Hemophagocytic Syndrome Associated With An Infection |
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Pancytopenia, Invasive parasitic infection, Splenomegaly, Opportunistic bacterial infection, Inva... |
ORPHA:158048 |
Macrophage Activation Syndrome |
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Increased inflammatory response, Increased circulating interleukin 6 concentration, Abnormality o... |
ORPHA:158061 |
Granulomatous Disease, Chronic, X-Linked |
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Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit... |
OMIM:306400 |
Omenn Syndrome |
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Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infections, Splenomegaly, Thro... |
OMIM:603554 |
Infection-Related Hemolytic Uremic Syndrome |
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Hemolytic anemia, Brain abscess, Increased circulating interleukin 6 concentration, Acute colitis... |
ORPHA:544482 |