Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
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Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... |
OMIM:242870 |
Immunodeficiency 18 |
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Recurrent otitis media, Decreased proportion of CD3-positive T cells, Lymphopenia, Recurrent resp... |
OMIM:615615 |
Okt4 Epitope Deficiency |
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Abnormal T cell morphology |
OMIM:613949 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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B lymphocytopenia, Recurrent respiratory infections, T lymphocytopenia, Decreased circulating IgG... |
OMIM:233650 |
Immunodeficiency 15A |
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Recurrent otitis media, Chronic mucocutaneous candidiasis, Decreased proportion of CD4-positive h... |
OMIM:618204 |
Cd8 Deficiency, Familial |
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Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections, Abs... |
OMIM:608957 |
Agammaglobulinemia 7, Autosomal Recessive |
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Recurrent respiratory infections, Agammaglobulinemia, Neutropenia, Recurrent infections |
OMIM:615214 |
Agammaglobulinemia 8, Autosomal Dominant |
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B lymphocytopenia, Agammaglobulinemia, Recurrent otitis media, Recurrent infections |
OMIM:616941 |
Lymphoid System Deterioration, Progressive |
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Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... |
OMIM:247630 |
Immunodeficiency 50 |
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Neutropenia, Decreased circulating antibody level, Recurrent urinary tract infections, Lymphopeni... |
OMIM:300988 |
Immunodeficiency 17 |
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Recurrent otitis media, Decreased proportion of CD8-positive T cells, Recurrent respiratory infec... |
OMIM:615607 |
Immunodeficiency 14A, Autosomal Dominant |
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Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... |
OMIM:615513 |
Cernunnos-Xlf Deficiency |
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Recurrent bacterial infections, B lymphocytopenia, Recurrent viral infections, Decreased circulat... |
ORPHA:169079 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
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T lymphocytopenia |
ORPHA:169095 |
Combined Immunodeficiency, X-Linked |
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Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... |
OMIM:312863 |
Immunodeficiency 13 |
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B lymphocytopenia, Recurrent otitis media, Recurrent upper respiratory tract infections, Recurren... |
OMIM:615518 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
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Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... |
OMIM:618806 |
Wiskott-Aldrich Syndrome 2 |
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Thrombocytopenia, Recurrent infections, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
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Failure to thrive secondary to recurrent infections, T lymphocytopenia, Recurrent opportunistic i... |
OMIM:608971 |
Immunodeficiency 21 |
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Abnormal natural killer cell morphology, Neutropenia, Recurrent fungal infections, Recurrent vira... |
OMIM:614172 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Neutropenia, Increased circulating IgA level, Recurrent viral infections, Recurrent infections, I... |
ORPHA:169154 |
Immunodeficiency 76 |
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B lymphocytopenia, Splenomegaly, Recurrent pneumonia, Lymphopenia, Recurrent bronchiolitis, T lym... |
OMIM:619164 |
Combined Immunodeficiency Due To Dock8 Deficiency |
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B lymphocytopenia, Recurrent viral infections, Onychomycosis, Increased circulating IgE level, Re... |
ORPHA:217390 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
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T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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B lymphocytopenia, Recurrent opportunistic infections, Recurrent otitis media, Increased circulat... |
ORPHA:277 |
Severe Combined Immunodeficiency, X-Linked |
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Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula... |
OMIM:300400 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
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B lymphocytopenia, Recurrent opportunistic infections, Failure to thrive secondary to recurrent i... |
OMIM:601457 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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B lymphocytopenia, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T ... |
ORPHA:231154 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
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T lymphocytopenia |
DECIPHER:16 |
Immunodeficiency 25 |
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Recurrent herpes, Complete or near-complete absence of specific antibody response to tetanus vacc... |
OMIM:610163 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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B lymphocytopenia, Sepsis, Neutropenia, Leukopenia, Partial absence of specific antibody response... |
OMIM:618986 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Abnormal CD4:CD8 ratio, Recurrent bacterial infections, Recurrent infection of the gastrointestin... |
ORPHA:572 |
Immunodeficiency 57 With Autoinflammation |
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B lymphocytopenia, Decreased circulating antibody level, Reduced natural killer cell count, Peria... |
OMIM:618108 |
Immunodeficiency 68 |
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B lymphocytopenia, Sepsis, Abscess, T lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Immunodeficiency 85 And Autoimmunity |
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Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell cou... |
OMIM:619510 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo... |
ORPHA:911 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Impaired lymphocyte transfo... |
ORPHA:35078 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Recurrent ear infections, Recurrent viral infections, Anemia, Chronic mucocutaneous candidiasis, ... |
ORPHA:79124 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Impaired lymphocyte transformation with phytohemagglutinin, Recurrent otitis media, Recurrent low... |
OMIM:600802 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
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Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD4-pos... |
OMIM:611926 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
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T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Wiskott-Aldrich Syndrome |
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Sepsis, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent herpes, Decreased c... |
OMIM:301000 |
Infection-Related Hemolytic Uremic Syndrome |
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Brain abscess, Leukocytosis, Increased circulating interleukin 6, Abnormality of chemokine secret... |
ORPHA:544482 |