Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Reticular Dysgenesis |
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Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Isolated Anencephaly |
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Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
Hereditary Progressive Mucinous Histiocytosis |
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Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
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Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... |
OMIM:611926 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
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T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
Immunodeficiency 105 |
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Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Wiskott-Aldrich Syndrome 2 |
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Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
Severe Combined Immunodeficiency, X-Linked |
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Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... |
OMIM:300400 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
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Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
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Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... |
OMIM:619846 |
Combined Immunodeficiency, X-Linked |
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Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
Immunodeficiency 48 |
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Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia |
OMIM:269840 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... |
OMIM:618987 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
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T lymphocytopenia |
ORPHA:169095 |
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 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... |
OMIM:617241 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Lymphoproliferative Syndrome 3 |
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Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... |
OMIM:618261 |
Immunodeficiency 15A |
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Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
Persistent Polyclonal B-Cell Lymphocytosis |
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Splenomegaly, Decreased circulating total IgM, Lymphocytosis |
OMIM:606445 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circula... |
OMIM:602450 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... |
OMIM:212050 |
Immunodeficiency 52 |
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Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Immunodeficiency 75 With Lymphoproliferation |
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Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... |
OMIM:619126 |
Reticuloendotheliosis, X-Linked |
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Hepatosplenomegaly, Anemia, Lymphadenopathy |
OMIM:312500 |
Kimura Disease |
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Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... |
ORPHA:482 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
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Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Lymp... |
OMIM:618982 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
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Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
Immunodeficiency 64 With Lymphoproliferation |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Immunodeficiency 76 |
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Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Caspase 8 Deficiency |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... |
ORPHA:169154 |
Proteus-Like Syndrome |
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Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland |
ORPHA:2969 |
Immunodeficiency 97 With Autoinflammation |
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Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... |
OMIM:619802 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
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Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level |
OMIM:247800 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad... |
ORPHA:444463 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Decreased circulating IgG level, Decreased proportion of naive T cells, Abnormal immunoglobulin l... |
ORPHA:276 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
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Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... |
OMIM:619220 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Follicular hyperplasia, Splenomegaly... |
OMIM:614470 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Absence of lymph node germinal center, Increased circulating IgE level, Lack of T cell function, ... |
ORPHA:277 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
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Thymus hyperplasia |
OMIM:619036 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
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T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
Immunodeficiency 42 |
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Splenomegaly, Hypoplasia of the thymus |
OMIM:616622 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
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T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... |
OMIM:605258 |
Mu-Heavy Chain Disease |
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Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibody level, Anemia |
ORPHA:100024 |
Cernunnos-Xlf Deficiency |
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Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... |
ORPHA:169079 |
Immunodeficiency 19 |
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T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
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Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Decreased circulating antibody level, ... |
OMIM:613101 |
Immunodeficiency With Hyper-Igm, Type 5 |
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Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... |
OMIM:608106 |
Cd8 Deficiency, Familial |
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Absence of CD8-positive T cells |
OMIM:608957 |
Immunodeficiency 32A |
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Lymphadenitis, Granuloma, Lymphadenopathy |
OMIM:614893 |
Mast Cell Sarcoma |
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Mastocytosis, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:66661 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
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T lymphocytopenia |
DECIPHER:16 |
Autoimmune Lymphoproliferative Syndrome |
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Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, Follicular hype... |
OMIM:601859 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Immunodeficiency 68 |
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Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Pancytopen... |
OMIM:618986 |
Immunodeficiency, Common Variable, 1 |
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Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec... |
OMIM:607594 |
Immunodeficiency With Hyper-Igm, Type 4 |
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Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Impaired Ig class switch recombination,... |
OMIM:608184 |
Immunodeficiency 27A |
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Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ... |
OMIM:209950 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno... |
OMIM:308240 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
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Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Increased circulating IgG level, Decr... |
OMIM:618495 |
Purine Nucleoside Phosphorylase Deficiency |
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Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc... |
OMIM:613179 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
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Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
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, Absent p... |
OMIM:600802 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, Follicular hype... |
OMIM:603909 |
Burkitt Lymphoma |
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Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormality of th... |
ORPHA:543 |
Omenn Syndrome |
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Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas... |
OMIM:603554 |
Immunodeficiency 25 |
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Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Lymphoproliferative Syndrome 1 |
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Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
OMIM:613011 |
Immunodeficiency 57 With Autoinflammation |
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Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... |
OMIM:618108 |
Immunodeficiency 85 And Autoimmunity |
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Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... |
OMIM:619510 |
Immunodeficiency 13 |
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Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone marrow hypoce... |
OMIM:301078 |
Agammaglobulinemia, X-Linked |
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Agammaglobulinemia, Lymph node hypoplasia, T lymphocytopenia, Decreased circulating total IgM, B ... |
OMIM:300755 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Decreased circulating IgG level, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Spleno... |
OMIM:616100 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, ... |
OMIM:618935 |
Leukocyte Adhesion Deficiency, Type Iii |
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Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morphology, Hepatos... |
OMIM:612840 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Adrenal cortical sclerosis, Absent specific antibody response, Autoimmune hemolytic anemia, Sever... |
OMIM:102700 |
Proteus Syndrome |
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Thymus hyperplasia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged polycysti... |
ORPHA:744 |
Aregenerative Anemia |
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Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
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T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Ataxia-Telangiectasia |
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Decreased circulating IgG level, Diabetes mellitus, Female hypogonadism, Decreased circulating Ig... |
OMIM:208900 |
Immunodeficiency 17 |
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Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... |
OMIM:615607 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
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Brain abscess, Neutrophilia, Liver abscess, Abnormality of the lymphatic system, Abnormal lymph n... |
ORPHA:54251 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Decreased proportion of naive T cells, Aplasia of the thymus, Thyroiditis, Lymphadenopathy, T lym... |
ORPHA:83471 |
Selective Igm Deficiency |
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Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Lymphadenitis, Decreas... |
ORPHA:331235 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
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Aplasia of the thymus |
ORPHA:3004 |
Wiskott-Aldrich Syndrome |
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Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Immunodeficiency 9 |
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Hypoplasia of the thymus |
OMIM:612782 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Intermittent thrombocytopenia, Perianal abscess, Splenomegaly, Cryptorchidism, Erythroid hypoplas... |
OMIM:612541 |
Progressive Multifocal Leukoencephalopathy |
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Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Meige Disease |
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Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Acitretin/Etretinate Embryopathy |
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Hypoplasia of the thymus |
ORPHA:40366 |
Wiskott-Aldrich Syndrome |
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Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Syndromic Diarrhea |
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Increased mean platelet volume, Splenomegaly, Panhypogammaglobulinemia, Hypoplasia of the thymus,... |
ORPHA:84064 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Increased circulat... |
ORPHA:508533 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
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Cryptorchidism, Hypoplasia of the thymus |
OMIM:214110 |
Combined Immunodeficiency-Enteropathy Spectrum |
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Autoimmune hemolytic anemia, Hypoplasia of the thymus, Rectal abscess, Type I diabetes mellitus, ... |
ORPHA:436252 |
Lethal Congenital Contracture Syndrome 10 |
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Hypoplasia of the thymus |
OMIM:617022 |
Monosomy 22 |
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Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly |
ORPHA:96123 |
Cutis Laxa, Autosomal Recessive, Type Ic |
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Accessory spleen, Hypoplasia of the thymus, Adrenal hypoplasia |
OMIM:613177 |
Fraser Syndrome 2 |
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Hypoplasia of the thymus |
OMIM:617666 |
Digeorge Syndrome |
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Parathyroid agenesis, Impaired T cell function, Decreased circulating parathyroid hormone level, ... |
OMIM:188400 |
22Q11.2 Deletion Syndrome |
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Hypoparathyroidism, Hyperthyroidism, Abnormality of the tonsils, Impaired T cell function, Spleno... |
ORPHA:567 |
Treacher-Collins Syndrome |
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Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia of the thymus, Thyroid hypoplasia |
ORPHA:861 |
Eec Syndrome |
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Anterior hypopituitarism, Hypoplasia of the thymus, Decreased response to growth hormone stimulat... |
ORPHA:1896 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Hypoplastic ni... |
OMIM:620186 |
Wiedemann-Rautenstrauch Syndrome |
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Cryptorchidism, Hypoplasia of the thymus, Increased serum testosterone level |
OMIM:264090 |
Truncus Arteriosus |
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Adrenocortical abnormality, Hypoplasia of the thymus |
ORPHA:3384 |
Celiac Disease, Susceptibility To, 1 |
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Macrocytic anemia, Thyroiditis, Iron deficiency anemia, Delayed puberty, Type I diabetes mellitus... |
OMIM:212750 |
Idiopathic Achalasia |
|
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ORPHA:930 |