Retinal Telangiectasia And Hypogammaglobulinemia |
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Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Hepatic Venoocclusive Disease With Immunodeficiency |
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Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Monocyte Chemotactic Disorder |
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Cutaneous anergy |
OMIM:252250 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Increased circulating IgE level... |
OMIM:602450 |
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 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Abnormal immunoglobulin level, Increased circulating IgG level, Lymph node hypoplasia, Decreased ... |
ORPHA:276 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... |
OMIM:605258 |
Caspase 8 Deficiency |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Immunodeficiency With Hyper-Igm, Type 5 |
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Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... |
OMIM:608106 |
Purine Nucleoside Phosphorylase Deficiency |
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Impaired T cell function, Splenomegaly, Lymph node hypoplasia, Decreased lymphocyte proliferation... |
OMIM:613179 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
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Abnormality of T cell physiology |
OMIM:308220 |
Agammaglobulinemia, X-Linked |
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Agammaglobulinemia, Decreased circulating total IgM, Lymph node hypoplasia, Decreased circulating... |
OMIM:300755 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Immunodeficiency, Common Variable, 2 |
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Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Decreased circul... |
OMIM:240500 |
Kimura Disease |
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Increased circulating IgE level, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Reticular Dysgenesis |
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Hypoplasia of the thymus, Impaired T cell function, Lack of T cell function |
OMIM:267500 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Mediastinal lymphadenopathy, Splenomegaly, Decreased specific anti-polysaccharide antibody level,... |
OMIM:300853 |
Meige Disease |
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Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Immunodeficiency, Common Variable, 1 |
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Impaired T cell function, Splenomegaly, Lymphadenopathy, Decreased circulating total IgM, Decreas... |
OMIM:607594 |
Immunodeficiency 11A |
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Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... |
OMIM:615206 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Increased circulating IgE level, Increased circulating IgM level, Hypoplasia of the thymus, Reduc... |
OMIM:617241 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Increased circulating IgE level, Absent tonsils, Lack of T cell function, Absence of lymph node g... |
ORPHA:277 |
Autoimmune Lymphoproliferative Syndrome |
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Chronic noninfectious lymphadenopathy, Increased circulating IgA level, Follicular hyperplasia, S... |
OMIM:601859 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Ab... |
OMIM:308230 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Chronic noninfectious lymphadenopathy, Increased circulating IgA level, Follicular hyperplasia, S... |
OMIM:603909 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Decreased lymphocyte proliferation in response to anti-CD3, Absent peripheral lymph nodes in pres... |
OMIM:600802 |
Aregenerative Anemia |
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Abnormality of interleukin secretion, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:101096 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Increased circulating interleukin 6 concentration, Abnormality of interleukin secretion, Abnormal... |
ORPHA:542323 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Partial IgA deficiency, Lack of T cell function, Hepatosplenomegaly, Decreased circulating total ... |
ORPHA:35078 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Decreased lymphocyte proliferation in response to mitogen, Panhypogammaglobulinemia, Lack of T ce... |
ORPHA:572 |
Hereditary Orotic Aciduria |
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Splenomegaly, Impaired T cell function |
ORPHA:30 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Aplasia of the thymus, Oligoclonal T cell expansion, Decreased lymphocyte proliferation in respon... |
ORPHA:83471 |
Sarcoidosis, Susceptibility To, 1 |
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Abnormality of T cell physiology, Generalized lymphadenopathy, Splenomegaly, Mediastinal lymphade... |
OMIM:181000 |
Wiskott-Aldrich Syndrome |
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Reduced natural killer cell activity, Increased circulating IgA level, Increased circulating IgE ... |
OMIM:301000 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Abnormality of T cell physiology |
ORPHA:2237 |