T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnormal... |
ORPHA:276 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Abnormally low T cell receptor excision circle level, Pneumonia, Recurrent upper respiratory trac... |
OMIM:602450 |
Histiocytosis, Familial Lipochrome |
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Recurrent infections, Histiocytosis, Increased circulating antibody level |
OMIM:235900 |
Agammaglobulinemia, X-Linked |
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Enteroviral dermatomyositis syndrome, Recurrent otitis media, Lymph node hypoplasia, Prostatitis,... |
OMIM:300755 |
Purine Nucleoside Phosphorylase Deficiency |
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Pneumonia, Recurrent upper respiratory tract infections, Recurrent viral infections, Impaired T c... |
OMIM:613179 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Persistent CMV viremia, Recurrent viral infections, Decreased specific anti-polysaccharide antibo... |
OMIM:300853 |
Immunodeficiency 104 |
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Pneumonia, Chronic mucocutaneous candidiasis, Failure to thrive secondary to recurrent infections... |
OMIM:608971 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
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Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, R... |
OMIM:615513 |
Immunodeficiency 75 With Lymphoproliferation |
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Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... |
OMIM:619126 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Chronic tinea infection, Increased circulating IgE level, Hypereosinophilia, Abnormal B cell coun... |
OMIM:212050 |
Benign Cephalic Histiocytosis |
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Inflammatory abnormality of the skin, Histiocytosis, Skin rash |
ORPHA:157997 |
Immunodeficiency 52 |
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Persistent CMV viremia, Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphop... |
OMIM:617514 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
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Persistent CMV viremia, Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic an... |
OMIM:619220 |
Lymphoproliferative Syndrome 3 |
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Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618261 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
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Recurrent infections, Herpes simplex encephalitis, Recurrent otitis media, Increased circulating ... |
OMIM:618982 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... |
OMIM:606843 |
Neutropenia-Monocytopenia-Deafness Syndrome |
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Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
Lymphoproliferative Syndrome, X-Linked, 2 |
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Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Recurrent r... |
OMIM:300635 |
Griscelli Syndrome, Type 2 |
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Recurrent bacterial infections, Hepatosplenomegaly, Hemophagocytosis, Reduced delayed hypersensit... |
OMIM:607624 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
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Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... |
OMIM:619846 |
Lymphoproliferative Syndrome 2 |
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Recurrent pneumonia, Sepsis, Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia,... |
OMIM:615122 |
Immunodeficiency 69 |
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Hemophagocytosis, BCGitis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Skin ras... |
OMIM:618963 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Recurrent respiratory infections, Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased c... |
OMIM:614470 |
Immunodeficiency With Hyper-Igm, Type 4 |
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Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Osteomyeliti... |
OMIM:608184 |
Immunodeficiency, Common Variable, 1 |
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Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Conjuncti... |
OMIM:607594 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Recurrent upper respiratory tract infections, Recurrent pneumonia, Inflammatory abnormality of th... |
ORPHA:277 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
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Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly,... |
OMIM:613101 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... |
OMIM:618987 |
Ataxia-Pancytopenia Syndrome |
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Acute myelomonocytic leukemia, Abnormality of neutrophils, Pancytopenia, Splenomegaly, Abnormal m... |
ORPHA:2585 |
Immunodeficiency, Common Variable, 2 |
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Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired T cell func... |
OMIM:240500 |
Immunodeficiency 76 |
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Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Lymphadenopathy, B lymph... |
OMIM:619164 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infection of the gast... |
OMIM:605258 |
Caspase 8 Deficiency |
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Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Decre... |
OMIM:607271 |
Immunodeficiency 64 With Lymphoproliferation |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
Meige Disease |
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Lymph node hypoplasia, Recurrent skin infections, Absence of lymph node germinal center, Recurren... |
ORPHA:90186 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph... |
OMIM:308240 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
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Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... |
OMIM:150550 |
Immunodeficiency 32A |
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Lymphadenitis, Granuloma, BCGitis, Lymphadenopathy, Recurrent infections |
OMIM:614893 |
Immunodeficiency 97 With Autoinflammation |
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Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased proportion o... |
OMIM:619802 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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Decreased circulating IgG level, Pneumocystis jirovecii pneumonia, Bone marrow hypocellularity, H... |
OMIM:301078 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Lymphadenitis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired ne... |
OMIM:618986 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
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Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Anemia, Granulocytopenia |
OMIM:608898 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Recurrent viral infections, Lymphadenitis, Abnormal lymph node morphology, Decreased proportion o... |
ORPHA:911 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Recurrent viral infections, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... |
ORPHA:169154 |
Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
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Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... |
OMIM:620430 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
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Persistent CMV viremia, Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4... |
OMIM:618495 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
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Pneumonia, Recurrent mycobacterial infections, Recurrent Klebsiella infections, Abnormal circulat... |
ORPHA:319552 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... |
OMIM:233710 |
Immunodeficiency 105 |
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Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... |
OMIM:619924 |
Lymphoproliferative Syndrome 1 |
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Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... |
OMIM:613011 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Decreased proportion of memory B cells, Recurrent aspiration pneumonia, Recurrent viral infection... |
ORPHA:79124 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... |
OMIM:233690 |
Immunodeficiency 27A |
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Pneumonia, Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increa... |
OMIM:209950 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... |
OMIM:616100 |
Selective Igm Deficiency |
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Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... |
ORPHA:331235 |
Aicardi-Goutieres Syndrome 6 |
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Chilblains, Splenomegaly, Increased circulating Interferon-alpha concentration, Thrombocytopenia,... |
OMIM:615010 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Aplasia of the thymus, Meningitis, Chronic otitis media, Eczematoid dermatitis, Opportunistic inf... |
ORPHA:83471 |
Leukocyte Adhesion Deficiency, Type Iii |
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Sepsis, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocy... |
OMIM:612840 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
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Inflammation of the large intestine, Psoriasiform dermatitis, Recurrent lower respiratory tract i... |
ORPHA:436159 |
Macrophage Activation Syndrome |
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Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:158061 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Eczemat... |
OMIM:618935 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Enteroviral encephalitis, Increased circulating IgA level, Neutropenia, Recurrent lower respirato... |
OMIM:308230 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer ... |
OMIM:600802 |
Familial Hemophagocytic Lymphohistiocytosis |
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Increased circulating interleukin 6 concentration, Hemophagocytosis, Increased circulating interf... |
ORPHA:540 |
Granulomatous Disease, Chronic, X-Linked |
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Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Granuloma, Lymphadeniti... |
OMIM:306400 |
Hemophagocytic Syndrome Associated With An Infection |
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Histoplasmosis, Hemophagocytosis, Invasive fungal infection, Severe viral infection, Invasive par... |
ORPHA:158048 |
Omenn Syndrome |
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Pneumonia, Severe B lymphocytopenia, Recurrent viral infections, Splenomegaly, Hypoplasia of the ... |
OMIM:603554 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Chronic mucoc... |
ORPHA:391487 |
Infection-Related Hemolytic Uremic Syndrome |
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Pneumonia, Abnormal circulating chemokine concentration, Brain abscess, Severe viral infection, I... |
ORPHA:544482 |