Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
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Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level |
OMIM:616911 |
Pa Polymorphism Of Alpha-2-Globulin |
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Abnormal immunoglobulin level |
OMIM:260100 |
Immunodeficiency 24 |
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Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... |
OMIM:615897 |
Immunodeficiency, Common Variable, 5 |
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Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG |
OMIM:613495 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... |
OMIM:606843 |
Lymphoma, Hodgkin, Classic |
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Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin |
OMIM:236000 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Immunodeficiency 18 |
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Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... |
OMIM:615615 |
Retinal Telangiectasia And Hypogammaglobulinemia |
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Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
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Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... |
OMIM:616452 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
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Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... |
OMIM:153600 |
Immunodeficiency, Common Variable, 3 |
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Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... |
OMIM:613493 |
Immunodeficiency 86 |
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Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency 11A |
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Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... |
OMIM:615206 |
Immunodeficiency 62 |
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Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin... |
OMIM:618459 |
Immunodeficiency, Common Variable, 14 |
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Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
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Lymphopenia, Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
Reticular Dysgenesis |
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Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... |
OMIM:267500 |
Immunodeficiency 50 |
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Lymphopenia, Decreased circulating antibody level, Neutropenia |
OMIM:300988 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
Agammaglobulinemia 8A, Autosomal Dominant |
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Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... |
OMIM:605258 |
Immunodeficiency 105 |
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Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Hepatosplenomega... |
OMIM:619924 |
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, Common Variable, 4 |
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Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... |
OMIM:613494 |
Agammaglobulinemia 10, Autosomal Dominant |
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Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl... |
OMIM:619707 |
Caspase 8 Deficiency |
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Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno... |
OMIM:607271 |
Agammaglobulinemia 7, Autosomal Recessive |
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Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... |
OMIM:615214 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
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Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... |
OMIM:615513 |
Immunodeficiency With Hyper-Igm, Type 5 |
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Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... |
OMIM:608106 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... |
OMIM:618987 |
Immunodeficiency 52 |
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Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea... |
OMIM:617514 |
Immunodeficiency 19 |
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Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615617 |
Immune Deficiency, Familial Variable |
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Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Agammaglobulinemia 2, Autosomal Recessive |
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Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... |
OMIM:613500 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... |
OMIM:202700 |
Immunodeficiency 112 |
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Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... |
OMIM:620449 |
Transcobalamin Deficiency |
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Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... |
ORPHA:859 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
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Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... |
ORPHA:70593 |
Agammaglobulinemia 4, Autosomal Recessive |
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Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia... |
OMIM:613502 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
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 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... |
OMIM:212050 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
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Decreased circulating IgA level |
OMIM:235500 |
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 81 |
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Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... |
OMIM:619374 |
Agammaglobulinemia 6, Autosomal Recessive |
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Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, B lymphocyt... |
OMIM:612692 |
Immunodeficiency 48 |
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Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation... |
OMIM:269840 |
Immunodeficiency 67 |
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Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... |
OMIM:607676 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
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Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level |
OMIM:616910 |
Immunodeficiency, Common Variable, 6 |
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Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... |
OMIM:613496 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... |
OMIM:308240 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... |
ORPHA:331206 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ... |
OMIM:600802 |
Immunodeficiency With Hyper-Igm, Type 4 |
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Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia |
OMIM:608184 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve... |
OMIM:308230 |
Immunodeficiency 17 |
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Abnormal B cell morphology, Decreased proportion of CD8-positive T cells, Chronic decreased circu... |
OMIM:615607 |
Purine Nucleoside Phosphorylase Deficiency |
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Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Lymphopenia,... |
OMIM:613179 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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Abnormal B cell morphology, Aplasia of the thymus, T lymphocytopenia |
OMIM:618223 |
Gaisböck Syndrome |
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Increased red blood cell count, Increased hematocrit, Increased mean corpuscular hemoglobin conce... |
ORPHA:90041 |