T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Sepsis, Recurrent opportunistic infections, Recurrent herpes, Severe recurrent varicella, Decreas... |
ORPHA:276 |
Histiocytosis, Familial Lipochrome |
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Increased circulating antibody level, Recurrent infections, Histiocytosis |
OMIM:235900 |
Purine Nucleoside Phosphorylase Deficiency |
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Recurrent bacterial infections, Sinusitis, Recurrent opportunistic infections, Pneumonia, Neutrop... |
OMIM:613179 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Absent tonsils, Pneumonia, Lymph node hypoplasia, Aplasia of the thymus, Recurrent upper respirat... |
OMIM:602450 |
Agammaglobulinemia, X-Linked |
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Sinusitis, Enteroviral hepatitis, Agammaglobulinemia, Infectious encephalitis, Enteroviral dermat... |
OMIM:300755 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Chronic active Epstein-Barr virus infection, Severe varicella zoster infection, Mediastinal lymph... |
OMIM:300853 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
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Eczema, Recurrent opportunistic infections, Pneumonia, Failure to thrive secondary to recurrent i... |
OMIM:608971 |
Immunodeficiency 14A, Autosomal Dominant |
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Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... |
OMIM:615513 |
Immunodeficiency 75 |
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Decreased proportion of class-switched memory B cells, Bronchiectasis, Lymphadenopathy, Hepatospl... |
OMIM:619126 |
Benign Cephalic Histiocytosis |
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Inflammatory abnormality of the skin, Skin rash, Histiocytosis |
ORPHA:157997 |
Immunodeficiency 52 |
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Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Ly... |
OMIM:617514 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
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Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... |
OMIM:619220 |
Lymphoproliferative Syndrome 3 |
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Severe varicella zoster infection, Lymphadenopathy, Decreased circulating antibody level, Recurre... |
OMIM:618261 |
Immunodeficiency 72 With Autoinflammation |
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Herpes simplex encephalitis, Increased B cell count, Increased proportion of memory T cells, Bron... |
OMIM:618982 |
Candidiasis, Familial, 2 |
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Lymphadenopathy, Chronic oral candidiasis, Chronic tinea infection, Onychomycosis, Increased circ... |
OMIM:212050 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Recurrent bacterial infections, Neutropenia, Decreased circulating IgA level, Decreased circulati... |
OMIM:606843 |
Neutropenia-Monocytopenia-Deafness Syndrome |
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Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
Griscelli Syndrome, Type 2 |
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Recurrent bacterial infections, Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocy... |
OMIM:607624 |
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 |
Lymphoproliferative Syndrome, X-Linked, 2 |
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Inflammation of the large intestine, Folliculitis, Colitis, Decreased circulating antibody level,... |
OMIM:300635 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Absent tonsils, B lymphocytopenia, Sinusitis, Inflammatory abnormality of the skin, Recurrent opp... |
ORPHA:277 |
Lymphoproliferative Syndrome 2 |
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Sepsis, Severe varicella zoster infection, Pancytopenia, Lymphadenopathy, Decreased circulating a... |
OMIM:615122 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Lymphadenopathy, Recurrent otitis media, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Ly... |
ORPHA:444463 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Infectious encephalitis, Neutropenia, Pancytopenia, Lymphadenopathy, Decreased circulating IgG le... |
OMIM:308240 |
Immunodeficiency With Hyper-Igm, Type 4 |
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Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Bronchiectasis... |
OMIM:608184 |
Immunodeficiency, Common Variable, 1 |
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Recurrent bacterial infections, B lymphocytopenia, Decreased proportion of class-switched memory ... |
OMIM:607594 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
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Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... |
OMIM:613101 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Neutropenia, Monocytosis, Leukemia, Recurrent infections, Splenomegaly, Increased circulating ant... |
OMIM:614470 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Decreased circ... |
OMIM:605258 |
Ataxia-Pancytopenia Syndrome |
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Hypoplastic anemia, Decreased circulating antibody level, Acute myelomonocytic leukemia, Splenome... |
ORPHA:2585 |
Immunodeficiency 76 |
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B lymphocytopenia, Colitis, Lymphadenopathy, Splenomegaly, Recurrent pneumonia, Lymphopenia, Recu... |
OMIM:619164 |
Immunodeficiency 7 |
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Lymphadenopathy, Hypereosinophilia, Recurrent infections |
OMIM:615387 |
Immunodeficiency 64 |
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Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Defective T cell proliferation, Bronchiectas... |
OMIM:618534 |
Meige Disease |
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Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce... |
ORPHA:90186 |
Caspase 8 Deficiency |
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Eczema, Recurrent herpes, Pneumonia, Decreased circulating IgA level, Recurrent sinopulmonary inf... |
OMIM:607271 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
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Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Lymphadenopathy, Chronic ... |
OMIM:150550 |
Niemann-Pick Disease, Type B |
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Recurrent respiratory infections, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly |
OMIM:607616 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Sepsis, Severe varicella zoster infection, Neutropenia, Hepatosplenomegaly, Pancytopenia, Monocyt... |
OMIM:618986 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
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Reduced natural killer cell activity, Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis |
OMIM:608898 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Recurrent opportunistic infections, Stomatitis, Lymphadenopathy, Recurrent upper and lower respir... |
ORPHA:911 |
Immunodeficiency, Common Variable, 2 |
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Recurrent bacterial infections, Conjunctivitis, Recurrent bronchitis, Decreased circulating IgA l... |
OMIM:240500 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Neutropenia, Lymphadenopathy, Recurrent infections, Decreased proportion of CD3-positive T cells,... |
ORPHA:169154 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Recurrent E. coli infections, Eczematoid dermatitis, Lymphadenopathy, Lymphadenitis, Discoid lupu... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Recurrent E. coli infections, Eczematoid dermatitis, Lymphadenopathy, Lymphadenitis, Discoid lupu... |
OMIM:233710 |
Sea-Blue Histiocyte Disease |
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Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Sepsis, Eczema, Psoriasiform dermatitis, Bronchiectasis, Decreased circulating IgA level, Lymphad... |
OMIM:616100 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Recurrent E. coli infections, Eczematoid dermatitis, Lymphadenopathy, Lymphadenitis, Discoid lupu... |
OMIM:233690 |
Granulomatous Disease, Chronic, X-Linked |
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Recurrent E. coli infections, Eczematoid dermatitis, Lymphadenopathy, Lymphadenitis, Discoid lupu... |
OMIM:306400 |
Immunodeficiency 27A |
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Leukocytosis, Thrombocytosis, Enlarged mesenteric lymph node, Pneumonia, Lymphadenopathy, Salmone... |
OMIM:209950 |
Selective Igm Deficiency |
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Sepsis, Severe varicella zoster infection, Non-infectious meningitis, Recurrent herpes, Neutropen... |
ORPHA:331235 |
Leukocyte Adhesion Deficiency, Type Iii |
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Recurrent bacterial infections, Sepsis, Leukocytosis, Anemia, Abnormality of the lymph nodes, Spl... |
OMIM:612840 |
Thymic Aplasia |
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Sinusitis, Sepsis, Lymphadenopathy, Chronic otitis media, Recurrent infections, Recurrent candida... |
ORPHA:83471 |
Omenn Syndrome |
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Recurrent bacterial infections, B lymphocytopenia, Erythroderma, Pneumonia, Lymphadenopathy, Recu... |
OMIM:603554 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Sepsis, Neutropenia, Stomatitis, Hepatitis, Splenomegaly, Dysgammaglobulinemia, Hemolytic anemia,... |
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, Pneumonia, Cutaneous anergy, Recurren... |
OMIM:600802 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Eczema, Lymphadenopathy, Lymphadenitis, Abscess, Recurrent infections, Onychomycosis, Splenomegal... |
OMIM:618935 |
Hemophagocytic Syndrome Associated With An Infection |
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Chronic active Epstein-Barr virus infection, Abnormal inflammatory response, Abnormal cytokine si... |
ORPHA:158048 |
Macrophage Activation Syndrome |
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Increased circulating interleukin 6, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegal... |
ORPHA:158061 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Inflammation of the large intestine, Decreased mean platelet volume, Lymphadenopathy, Recurrent i... |
OMIM:617718 |
X-Linked Lymphoproliferative Disease |
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Myocarditis, Inflammation of the large intestine, Lymphadenopathy, Decreased circulating antibody... |
ORPHA:2442 |
Leishmaniasis |
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Leukopenia, Lymphadenopathy, Rhinitis, Anemia, Splenomegaly, Abnormal macrophage morphology, Incr... |
ORPHA:507 |
Infection-Related Hemolytic Uremic Syndrome |
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Brain abscess, Leukocytosis, Myocarditis, Increased circulating interleukin 6, Pneumonia, Acute c... |
ORPHA:544482 |