Immunodeficiency 24 |
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Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... |
OMIM:615897 |
Pa Polymorphism Of Alpha-2-Globulin |
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Abnormal immunoglobulin level |
OMIM:260100 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Immunodeficiency 62 |
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Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... |
OMIM:618459 |
Immunodeficiency 105 |
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Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Agammaglobulinemia 10, Autosomal Dominant |
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Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
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Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... |
OMIM:618987 |
Agammaglobulinemia 8A, Autosomal Dominant |
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Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Immunodeficiency, Common Variable, 14 |
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Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
Immunodeficiency 11A |
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Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
Reticular Dysgenesis |
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Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
Immunodeficiency 86 |
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Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Agammaglobulinemia 2, Autosomal Recessive |
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Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... |
OMIM:613500 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:605258 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
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Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level |
OMIM:247800 |
Caspase 8 Deficiency |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Agammaglobulinemia 3, Autosomal Recessive |
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Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
Immunodeficiency, Common Variable, 13 |
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Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
Immunodeficiency With Hyper-Igm, Type 5 |
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Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:608106 |
Transcobalamin Deficiency |
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Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Agammaglobulinemia 8B, Autosomal Recessive |
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Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Agammaglobulinemia 6, Autosomal Recessive |
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Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... |
OMIM:612692 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Immunodeficiency 109 With Lymphoproliferation |
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Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Absent ci... |
OMIM:620282 |
Immunodeficiency 14B, Autosomal Recessive |
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Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat... |
OMIM:619281 |
Cernunnos-Xlf Deficiency |
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Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... |
ORPHA:169079 |
Immunodeficiency 70 |
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Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Immunodeficiency 102 |
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Decreased circulating IgG level, Partial absence of specific antibody response to Haemophilus inf... |
OMIM:301082 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
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Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... |
OMIM:619705 |
Immunodeficiency, Common Variable, 1 |
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Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec... |
OMIM:607594 |
Immunodeficiency 57 With Autoinflammation |
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Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... |
OMIM:618108 |
Immunodeficiency 43 |
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Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha... |
OMIM:241600 |
Immunodeficiency 84 |
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Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Immunodeficiency 36 With Lymphoproliferation |
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Decreased circulating IgG level, Splenomegaly, Chronic lymphatic leukemia, Increased circulating ... |
OMIM:616005 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, B lymphocytopenia, L... |
ORPHA:277 |
Immunodeficiency 92 |
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Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... |
ORPHA:331206 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
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T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia |
OMIM:601457 |
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, Decrease... |
OMIM:600802 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Decreased circulating IgG level, Pancytopenia, Decreased lymphocyte proliferation in response to ... |
OMIM:618986 |
Autoinflammatory Disease, Systemic, X-Linked |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
Immunodeficiency 21 |
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Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Agammaglobulinemia 9, Autosomal Recessive |
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Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
Immunodeficiency 13 |
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Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... |
OMIM:308230 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Absent specific antibody response, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia... |
OMIM:102700 |
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 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marrow hypocellularity, Hemoph... |
OMIM:301078 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... |
OMIM:619313 |
Agammaglobulinemia 1, Autosomal Recessive |
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Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Rectal abscess, Neut... |
OMIM:601495 |
Immunodeficiency 68 |
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T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess |
OMIM:612260 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE level, B lymphocytop... |
OMIM:602450 |
Purine Nucleoside Phosphorylase Deficiency |
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Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc... |
OMIM:613179 |
Omenn Syndrome |
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Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Anemia, Decreased ci... |
OMIM:620005 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
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Abnormal lymphocyte morphology, Decreased circulating antibody level, Severe B lymphocytopenia, A... |
ORPHA:293978 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Decreased circulating total IgM, Severe B lymphocytopenia, B lymphocytopenia |
ORPHA:83617 |