Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
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Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... |
OMIM:308220 |
Immunodeficiency 24 |
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Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... |
OMIM:615897 |
Monocyte Chemotactic Disorder |
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Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
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Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... |
OMIM:242870 |
Reticular Dysgenesis |
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Sepsis, Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital ag... |
OMIM:267500 |
Immunodeficiency 18 |
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Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... |
OMIM:615615 |
Immunodeficiency, Common Variable, 5 |
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Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Recurrent ... |
OMIM:613495 |
Candidiasis, Familial, 1 |
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Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Immunodeficiency, Common Variable, 4 |
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Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,... |
OMIM:613494 |
Retinal Telangiectasia And Hypogammaglobulinemia |
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Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Myelolymphatic Insufficiency |
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Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... |
OMIM:310350 |
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 |
Immunodeficiency 11A |
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Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... |
OMIM:615206 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infection of the gast... |
OMIM:605258 |
Immunodeficiency, Common Variable, 3 |
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Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... |
OMIM:613493 |
Immunodeficiency 35 |
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Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... |
OMIM:611521 |
Agammaglobulinemia 2, Autosomal Recessive |
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Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... |
OMIM:613500 |
Agammaglobulinemia 3, Autosomal Recessive |
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Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B cells, Neu... |
OMIM:613501 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
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Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Agammaglobulinemia 4, Autosomal Recessive |
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Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:613502 |
Wiskott-Aldrich Syndrome 2 |
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Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
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 |
Immunodeficiency, Common Variable, 1 |
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Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... |
OMIM:607594 |
Caspase 8 Deficiency |
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Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno... |
OMIM:607271 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Recurrent viral infections, Decreased specific anti-polysaccharide antibody level, Recurrent otit... |
OMIM:300853 |
Immunodeficiency 61 |
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Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased circulat... |
OMIM:300310 |
Immunodeficiency 112 |
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Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C... |
OMIM:620449 |
Immunodeficiency 52 |
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Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat... |
OMIM:617514 |
Immunodeficiency, Common Variable, 2 |
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Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... |
OMIM:240500 |
Immunodeficiency With Hyper-Igm, Type 5 |
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Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... |
OMIM:608106 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Recurrent bacterial infecti... |
OMIM:202700 |
Griscelli Syndrome, Type 2 |
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Recurrent bacterial infections, Hepatosplenomegaly, Hemophagocytosis, Reduced delayed hypersensit... |
OMIM:607624 |
Immunodeficiency, Common Variable, 13 |
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Recurrent viral infections, Pancytopenia, Decreased circulating antibody level, Recurrent fungal ... |
OMIM:616873 |
Agammaglobulinemia 6, Autosomal Recessive |
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Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:612692 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Recurrent upper respiratory tract infections, Recurrent pneumonia, Lack of T cell function, Recur... |
ORPHA:277 |
Immunodeficiency 81 |
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Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... |
OMIM:619374 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Abnormal CD4:CD8 ratio, Recurrent viral infections, Pancytopenia, Decreased proportion of CD4-pos... |
ORPHA:572 |
Immunodeficiency 64 With Lymphoproliferation |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Decreased circulating IgG level, Abnormal T cell count, Recurrent viral infections, Recurrent ent... |
ORPHA:331206 |
Mhc Class Ii Deficiency 1 |
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Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... |
OMIM:209920 |
Immunodeficiency 96 |
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Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp... |
OMIM:619774 |
Adult Idiopathic Neutropenia |
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Lymphopenia, Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infe... |
ORPHA:2688 |
Specific Granule Deficiency 1 |
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Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne... |
OMIM:245480 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Absent natural ... |
ORPHA:35078 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer cells, Decr... |
OMIM:600802 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Reduced delayed hy... |
OMIM:617241 |
Autoimmune Lymphoproliferative Syndrome |
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Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... |
OMIM:601859 |
Immunodeficiency 67 |
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Recurrent staphylococcal infections, Abnormal T cell count, Increased circulating IgE level, Tran... |
OMIM:607676 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Recurrent viral infect... |
OMIM:242700 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Decreased circulating IgG level, Decreased circulating IgE, Sepsis, Impaired memory B cell genera... |
OMIM:308230 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Recurrent... |
ORPHA:79124 |
X-Linked Severe Congenital Neutropenia |
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Monocytopenia, Neutropenia, Recurrent bacterial infections |
ORPHA:86788 |
Agammaglobulinemia 1, Autosomal Recessive |
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Recurrent pneumonia, Recurrent enteroviral infections, Panhypogammaglobulinemia, Recurrent otitis... |
OMIM:601495 |
Purine Nucleoside Phosphorylase Deficiency |
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Recurrent upper respiratory tract infections, Recurrent viral infections, Decreased lymphocyte pr... |
OMIM:613179 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... |
OMIM:603909 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Recurrent infections, Decreased lymphocyte proliferation in response to mitogen, Sepsis, Recurren... |
ORPHA:83471 |
Aicardi-Goutieres Syndrome 6 |
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Increased circulating Interferon-alpha concentration, Hemolytic anemia, Splenomegaly, Thrombocyto... |
OMIM:615010 |
Wiskott-Aldrich Syndrome |
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Decreased proportion of CD8-positive T cells, Lymphopenia, Recurrent otitis media, Increased circ... |
OMIM:301000 |
Macrophage Activation Syndrome |
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Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:158061 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P... |
OMIM:618213 |
Immunodeficiency 58 |
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Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic mucocutaneous candidia... |
OMIM:618131 |
Congenital Disorder Of Glycosylation, Type Iil |
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Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Pancytopenia, Sp... |
OMIM:614576 |
Orotic Aciduria |
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Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Hypochromia, Po... |
OMIM:258900 |
Schimke Immuno-Osseous Dysplasia |
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Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Impaired T cell function, ... |
ORPHA:1830 |
Vici Syndrome |
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Decreased circulating IgG level, Cutaneous anergy, Recurrent viral infections, Chronic mucocutane... |
OMIM:242840 |
Hereditary Orotic Aciduria |
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Anemia, Recurrent respiratory infections, Splenomegaly, Impaired T cell function |
ORPHA:30 |
Obesity Due To Congenital Leptin Deficiency |
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Decreased T cell activation, Recurrent upper respiratory tract infections, Decreased proportion o... |
ORPHA:66628 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Decreased T cell activation, Recurrent upper respiratory tract infections, Decreased proportion o... |
ORPHA:179494 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Recurrent upper respiratory tract infections, Chronic mucocutaneous candidiasis, Recurrent Asperg... |
ORPHA:391487 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
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Splenomegaly, Impaired T cell function, Recurrent candida infections |
OMIM:201100 |
Infection-Related Hemolytic Uremic Syndrome |
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Abnormal circulating chemokine concentration, Brain abscess, Leukocytosis, Thrombocytopenia, Incr... |
ORPHA:544482 |
Velocardiofacial Syndrome |
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Recurrent infections, Impaired T cell function |
OMIM:192430 |
Sarcoidosis, Susceptibility To, 1 |
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Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Increased circulating antibody level |
OMIM:181000 |
Progeroid Short Stature With Pigmented Nevi |
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Recurrent viral infections, Impaired T cell function |
OMIM:176690 |
Digeorge Syndrome |
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Recurrent pneumonia, Impaired T cell function, Recurrent otitis media, Splenomegaly, Recurrent si... |
OMIM:188400 |
22Q11.2 Deletion Syndrome |
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Impaired T cell function, Hypoplasia of the thymus, Splenomegaly, Thrombocytopenia |
ORPHA:567 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Abnormality of T cell physiology |
ORPHA:2237 |