Immunodeficiency 24 |
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Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... |
OMIM:615897 |
Combined Immunodeficiency, X-Linked |
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Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
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 |
Retinal Telangiectasia And Hypogammaglobulinemia |
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Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Monocyte Chemotactic Disorder |
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Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Wiskott-Aldrich Syndrome 2 |
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Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defec... |
OMIM:614493 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Immunodeficiency 15A |
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Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candidiasis, Recurrent otitis... |
OMIM:618204 |
Immunodeficiency 48 |
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Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczematoid dermatitis, Panhypogammaglob... |
OMIM:269840 |
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 |
Immunodeficiency 105 |
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Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Immunodeficiency 11A |
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Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
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Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Increased ci... |
OMIM:615513 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased ... |
OMIM:617241 |
Severe Combined Immunodeficiency, X-Linked |
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Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Reduced natural... |
OMIM:300400 |
Caspase 8 Deficiency |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
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Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... |
OMIM:611926 |
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 |
Immunodeficiency 57 With Autoinflammation |
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Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreased circulating antibody level, T l... |
OMIM:618108 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
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T lymphocytopenia, Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle l... |
OMIM:618806 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
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Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Ot... |
OMIM:601457 |
Immunodeficiency, Common Variable, 1 |
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Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence o... |
OMIM:607594 |
Immunodeficiency 97 With Autoinflammation |
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Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Cernunnos-Xlf Deficiency |
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Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... |
ORPHA:169079 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Inflammatory abnormality of the skin, Sinusitis, Increased circulating IgE level, Recurrent pneum... |
ORPHA:277 |
Immunodeficiency 25 |
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Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Immunodeficiency 85 And Autoimmunity |
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Decreased circulating IgG level, Eczema, Oligoarthritis, T lymphocytopenia, Decreased circulating... |
OMIM:619510 |
Cd8 Deficiency, Familial |
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Absence of CD8-positive T cells, Bronchiectasis |
OMIM:608957 |
Immunodeficiency 81 |
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Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Immunodeficiency 13 |
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Lymphopenia, Recurrent pneumonia, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Recurrent... |
OMIM:615518 |
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 |
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 By Defective Expression Of Mhc Class Ii |
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Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Chronic hepatitis due to cryptos... |
ORPHA:572 |
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 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T lymphocytopenia... |
OMIM:242700 |
Immunodeficiency 17 |
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Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic decrea... |
OMIM:615607 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo... |
ORPHA:911 |
Selective Igm Deficiency |
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Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... |
ORPHA:331235 |
Aregenerative Anemia |
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Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... |
ORPHA:101096 |
Immunodeficiency 68 |
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Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... |
OMIM:612260 |
Wiskott-Aldrich Syndrome |
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Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... |
OMIM:301000 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Agammaglobulinemia, X-Linked |
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T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ... |
OMIM:300755 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, In... |
ORPHA:542323 |
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 |
Infection-Related Hemolytic Uremic Syndrome |
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Hemolytic anemia, Brain abscess, Increased circulating interleukin 6 concentration, Acute colitis... |
ORPHA:544482 |
Progressive Multifocal Leukoencephalopathy |
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Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |