Autoimmune Disease |
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Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
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 24 |
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Decreased specific pneumococcal antibody level, Defective T cell proliferation, Severe varicella ... |
OMIM:615897 |
Complement Component 4, Partial Deficiency Of |
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Systemic lupus erythematosus |
OMIM:120790 |
Immunodeficiency 18 |
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Defective T cell proliferation, Recurrent otitis media, Decreased proportion of CD3-positive T ce... |
OMIM:615615 |
Pemphigus Vulgaris, Familial |
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Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Monocyte Chemotactic Disorder |
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Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
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Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... |
OMIM:308220 |
Agammaglobulinemia 2, Autosomal Recessive |
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Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re... |
OMIM:613500 |
Agammaglobulinemia 3, Autosomal Recessive |
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Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Recurrent ... |
OMIM:613501 |
Myelolymphatic Insufficiency |
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Recurrent bacterial infections, Recurrent viral infections, Hyposegmentation of neutrophil nuclei... |
OMIM:310350 |
Tn Polyagglutination Syndrome |
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Autoimmunity |
OMIM:300622 |
Lupus Erythematosus Tumidus |
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Anti-La/SS-B antibody positivity, Deep dermal perivascular inflammatory infiltrate, Autoimmune an... |
ORPHA:90283 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia |
OMIM:183350 |
Immunodeficiency, Common Variable, 3 |
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Recurrent bacterial infections, Decreased proportion of class-switched memory B cells, Reduced is... |
OMIM:613493 |
Hashimoto Thyroiditis |
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Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
Retinal Telangiectasia And Hypogammaglobulinemia |
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Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Reticular Dysgenesis |
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Lack of T cell function, Leukopenia, Impaired T cell function, Congenital agranulocytosis, Hypopl... |
OMIM:267500 |
Immunodeficiency, Common Variable, 5 |
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Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... |
OMIM:613495 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
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Recurrent bacterial infections, Neutropenia, Recurrent fungal infections, Recurrent viral infecti... |
OMIM:614868 |
Cernunnos-Xlf Deficiency |
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Recurrent bacterial infections, B lymphocytopenia, Recurrent viral infections, Decreased circulat... |
ORPHA:169079 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Recurrent bacterial infections, Neutropenia, Decreased circulating IgA level, Decreased circulati... |
OMIM:606843 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia |
OMIM:233650 |
Wiskott-Aldrich Syndrome 2 |
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Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased... |
OMIM:614493 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
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Recurrent bacterial infections, Recurrent staphylococcal infections, Neutropenia, Recurrent strep... |
ORPHA:70592 |
Complement Component 8 Deficiency, Type I |
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Systemic lupus erythematosus |
OMIM:613790 |
Agammaglobulinemia 4, Autosomal Recessive |
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Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent otitis media, Recurren... |
OMIM:613502 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Decreased circ... |
OMIM:605258 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
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Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media, Neutrop... |
OMIM:616022 |
Immunodeficiency 61 |
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Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Recurrent respiratory... |
OMIM:300310 |
Mannose-Binding Lectin Deficiency |
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Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurrent herpes, Recurr... |
OMIM:614372 |
Immunodeficiency, Common Variable, 4 |
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Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... |
OMIM:613494 |
Immunodeficiency 15A |
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Recurrent otitis media, Chronic mucocutaneous candidiasis, Decreased proportion of CD4-positive h... |
OMIM:618204 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Chronic active Epstein-Barr virus infection, Severe varicella zoster infection, Decreased CD69 up... |
OMIM:300853 |
Immunodeficiency, Common Variable, 1 |
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Recurrent bacterial infections, B lymphocytopenia, Decreased proportion of class-switched memory ... |
OMIM:607594 |
Complement Component 7 Deficiency |
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Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Immunodeficiency 35 |
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Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... |
OMIM:611521 |
Cd8 Deficiency, Familial |
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Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections, Abs... |
OMIM:608957 |
Immunodeficiency 84 |
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Recurrent bacterial infections, B lymphocytopenia, Splenomegaly, Perianal abscess, Persistent EBV... |
OMIM:619437 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Recurrent bacterial infections, Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocyto... |
OMIM:202700 |
Combined Immunodeficiency, X-Linked |
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Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... |
OMIM:312863 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Sepsis, Recurrent opportunistic infections, Recurrent herpes, Severe recurrent varicella, Decreas... |
ORPHA:276 |
Specific Granule Deficiency 1 |
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Recurrent bacterial infections, Absent neutrophil lactoferrin, Absent neutrophil specific granule... |
OMIM:245480 |
Immunodeficiency, Common Variable, 13 |
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Recurrent bacterial infections, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circul... |
OMIM:616873 |
Agammaglobulinemia 1, Autosomal Recessive |
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Recurrent bacterial infections, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Decreased cir... |
OMIM:601495 |
Lymphoid System Deterioration, Progressive |
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Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... |
OMIM:247630 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Neutropenia, Lack of T cell function, Recurrent herpes, Recurrent protozoan infections, Neutropen... |
ORPHA:572 |
Immunodeficiency With Hyper-Igm, Type 5 |
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Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... |
OMIM:608106 |
Immunodeficiency 34 |
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Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
Agammaglobulinemia 6, Autosomal Recessive |
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Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... |
OMIM:612692 |
Immunodeficiency 30 |
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Recurrent infections, Recurrent mycobacterial infections |
OMIM:614891 |
Griscelli Syndrome, Type 2 |
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Recurrent bacterial infections, Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocy... |
OMIM:607624 |
Immunodeficiency 14A, Autosomal Dominant |
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Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... |
OMIM:615513 |
Immunodeficiency 51 |
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Chronic furunculosis, Recurrent bronchitis, Chronic oral candidiasis, Recurrent otitis media, Chr... |
OMIM:613953 |
Neutropenia, Severe Congenital, X-Linked |
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Recurrent bacterial infections, Neutropenia |
OMIM:300299 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Recurrent bacterial infections, Abnormal B cell count, Decreased circulating IgA level, Recurrent... |
ORPHA:331206 |
Complement Component 8 Deficiency, Type Ii |
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Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Candidiasis, Familial, 1 |
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Chronic mucocutaneous candidiasis, Cutaneous anergy, Recurrent viral infections |
OMIM:114580 |
Adult Idiopathic Neutropenia |
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Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren... |
ORPHA:2688 |
Complement Factor D Deficiency |
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Recurrent bacterial infections |
OMIM:613912 |
Systemic Lupus Erythematosus 16 |
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Systemic lupus erythematosus |
OMIM:614420 |
Masp2 Deficiency |
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Systemic lupus erythematosus, Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
C1Q Deficiency |
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Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
Complement Component C1S Deficiency |
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Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
Immunodeficiency, Common Variable, 2 |
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Recurrent bacterial infections, Impaired T cell function, Decreased circulating IgA level, Recurr... |
OMIM:240500 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Neutropenia, Recurrent infections, Decreased proportion of CD3-positive T cells, Hepatosplenomega... |
ORPHA:169154 |
Complement Component 6 Deficiency |
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Recurrent meningococcal disease |
OMIM:612446 |
Granulomatous disease with defect in neutrophil chemotaxis |
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Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Whim Syndrome 1 |
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Recurrent bacterial infections, Neutropenia, Decreased circulating IgG level, Decreased circulati... |
OMIM:193670 |
Complement Component C1R/C1S Deficiency |
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Autoimmunity, Discoid lupus rash, Nephritis, Arthritis |
OMIM:216950 |
Bare Lymphocyte Syndrome, Type Ii |
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Recurrent bacterial infections, Agammaglobulinemia, Infectious encephalitis, Recurrent protozoan ... |
OMIM:209920 |
Immunodeficiency With Hyper-Igm, Type 4 |
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Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent uppe... |
OMIM:608184 |
Immunodeficiency 17 |
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Recurrent otitis media, Decreased proportion of CD8-positive T cells, Recurrent respiratory infec... |
OMIM:615607 |
Immunodeficiency 12 |
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Recurrent bacterial infections, Recurrent viral infections |
OMIM:615468 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
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Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... |
ORPHA:275 |
Caspase 8 Deficiency |
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Recurrent herpes, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ... |
OMIM:607271 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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B lymphocytopenia, Recurrent opportunistic infections, Lack of T cell function, Recurrent otitis ... |
ORPHA:277 |
Immunoglobulin A Deficiency 2 |
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Decreased circulating IgA level, Autoimmunity |
OMIM:609529 |
Immunodeficiency 21 |
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Abnormal natural killer cell morphology, Neutropenia, Recurrent fungal infections, Recurrent vira... |
OMIM:614172 |
Immunodeficiency 28 |
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Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
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Recurrent bacterial infections |
OMIM:257150 |
Autoimmune Lymphoproliferative Syndrome |
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Platelet antibody positive, Neutropenia in presence of anti-neutropil antibodies, Increased circu... |
OMIM:601859 |
Severe Combined Immunodeficiency, X-Linked |
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Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula... |
OMIM:300400 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo... |
ORPHA:911 |
Thymic Aplasia |
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Recurrent bacterial infections, Sepsis, Recurrent infection of the gastrointestinal tract, Decrea... |
ORPHA:83471 |
Immunodeficiency 33 |
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Increased circulating IgA level, Disseminated nontuberculous mycobacterial infection, Recurrent b... |
OMIM:300636 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
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Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Recurren... |
OMIM:243700 |
Immunodeficiency 38 With Basal Ganglia Calcification |
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Recurrent mycobacterial infections |
OMIM:616126 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed hypersen... |
OMIM:617241 |
Immunodeficiency 81 |
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Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Red... |
OMIM:619374 |
Insulin Autoimmune Syndrome |
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Arthralgia/arthritis, Autoimmunity, Systemic lupus erythematosus, Autoimmune antibody positivity,... |
ORPHA:411593 |
Pulmonary Nodular Lymphoid Hyperplasia, Familial |
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Increased circulating antibody level, Rheumatoid arthritis, Antinuclear antibody positivity, Syst... |
OMIM:178610 |
Immunodeficiency, Common Variable, 6 |
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Recurrent bacterial infections, Decreased specific pneumococcal antibody level, Complete or near-... |
OMIM:613496 |
Ficolin 3 Deficiency |
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Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat... |
OMIM:613860 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
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Coccidioidomycosis, Severe toxoplasmosis, BCGosis, Histoplasmosis, Disseminated nontuberculous my... |
ORPHA:319552 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
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Autoimmunity, Increased circulating antibody level, Recurrent otitis media, Autoimmune hemolytic ... |
OMIM:618495 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Recurrent bacterial infections, Sepsis, Neutropenia, Decreased circulating IgA level, Decreased c... |
OMIM:308230 |
Immunodeficiency 67 |
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Increased circulating IgE level, Transient neutropenia, Recurrent staphylococcal infections, Recu... |
OMIM:607676 |
Immunoglobulin A Deficiency 1 |
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Decreased circulating IgA level, Autoimmunity |
OMIM:137100 |
Immunodeficiency 36 |
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Recurrent bacterial infections, Chronic lymphatic leukemia, Decreased circulating antibody level,... |
OMIM:616005 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Recurrent bacterial infections, B lymphocytopenia, Severe varicella zoster infection, Decreased c... |
OMIM:606367 |
Complement Component 2 Deficiency |
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Systemic lupus erythematosus |
OMIM:217000 |
Chilblain Lupus |
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Inflammatory abnormality of the skin, Discoid lupus rash, Systemic lupus erythematosus, Rheumatoi... |
ORPHA:90280 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD4-pos... |
OMIM:611926 |
Selective Igm Deficiency |
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Sepsis, Severe varicella zoster infection, Recurrent herpes, Neutropenia in presence of anti-neut... |
ORPHA:331235 |
Immunodeficiency 64 |
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Abnormal CD4:CD8 ratio, Defective T cell proliferation, Increased circulating IgA level, Decrease... |
OMIM:618534 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Autoimmunity, Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, ... |
OMIM:617006 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmunity, Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Autoimmune thrombo... |
ORPHA:444463 |
Immunodeficiency 25 |
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Recurrent herpes, Complete or near-complete absence of specific antibody response to tetanus vacc... |
OMIM:610163 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent bacterial infections, Recurrent opportunistic infections, Impaired T cell function, Neu... |
OMIM:613179 |
Immunodeficiency 13 |
|
B lymphocytopenia, Recurrent otitis media, Recurrent upper respiratory tract infections, Recurren... |
OMIM:615518 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating IgA level, Recurrent fun... |
OMIM:102700 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Impaired lymphocyte transfo... |
ORPHA:35078 |
Immunodeficiency 31B |
|
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections |
OMIM:613796 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Recurrent otitis me... |
OMIM:600802 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
B lymphocytopenia, Recurrent viral infections, Onychomycosis, Increased circulating IgE level, Re... |
ORPHA:217390 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Monocytopenia, Neutropenia |
ORPHA:86788 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Sepsis, B lymphocytopenia, Severe varicella zoster infection, Neutropenia, Pancytopenia, Leukopen... |
OMIM:618986 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, Recurrent opportunistic infections, Failure to thrive secondary to recurrent i... |
OMIM:601457 |
Pgm3-Cdg |
|
Sepsis, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Recurrent infections, ... |
ORPHA:443811 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Eosinophilopenia |
|
Autoimmunity, Allergic rhinitis |
OMIM:131430 |
Omenn Syndrome |
|
Recurrent bacterial infections, B lymphocytopenia, Recurrent fungal infections, Recurrent viral i... |
OMIM:603554 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Recurrent sinopulmonary infections, Recurrent fungal infections, Chronic mucocutaneous candidiasi... |
OMIM:147060 |
Immune Deficiency Disease |
|
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating total IgM |
OMIM:242850 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Acute lymphobl... |
ORPHA:486 |
Diabetes Mellitus, Ketosis-Prone |
|
Autoimmunity |
OMIM:612227 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Recurrent bacterial infections, Increased circulating IgA level, Reduced natural killer cell acti... |
OMIM:300291 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent bacterial infections, Infectious encephalitis, Enteroviral dermatomyositis syndrome, Py... |
OMIM:307200 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Platelet antibody positive, Neutropenia in presence of anti-neutropil antibodies, Increased circu... |
OMIM:603909 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell cou... |
OMIM:619510 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent bacterial infections, Sepsis, Decreased specific pneumococcal antibody level, Pulmonary... |
ORPHA:183675 |
Specific Granule Deficiency 2 |
|
Recurrent bacterial infections, Sepsis, Neutropenia, Absent neutrophil specific granules, Recurre... |
OMIM:617475 |
Subcorneal Pustular Dermatosis |
|
Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma... |
ORPHA:48377 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Reduced natural killer... |
OMIM:618108 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Immunodeficiency 7 |
|
Autoimmunity |
OMIM:615387 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Sepsis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, E... |
OMIM:612840 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:613779 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating total IgA, Decreased spe... |
ORPHA:221139 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent E. coli infections, Splenomegaly, Granulomatosis, Impaired oxidative burst, Recurrent p... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent E. coli infections, Splenomegaly, Granulomatosis, Impaired oxidative burst, Recurrent p... |
OMIM:233710 |
Immunodeficiency 23 |
|
Severe varicella zoster infection, Neutropenia, Eosinophilia, Abscess, Increased circulating IgG ... |
OMIM:615816 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent bacterial infections, Sepsis, Recurrent fungal infections, Recurrent viral infections, ... |
ORPHA:169090 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormal T cell morphology, Pyoderma, Recurrent bronchopulmonary infections, Aplasia of the thymu... |
OMIM:242700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent E. coli infections, Splenomegaly, Granulomatosis, Impaired oxidative burst, Recurrent p... |
OMIM:233690 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent E. coli infections, Splenomegaly, Granulomatosis, Impaired oxidative burst, Recurrent p... |
OMIM:306400 |
Wiskott-Aldrich Syndrome |
|
Sepsis, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent herpes, Decreased c... |
OMIM:301000 |
Vici Syndrome |
|
Recurrent bacterial infections, Recurrent fungal infections, Cutaneous anergy, Decreased circulat... |
OMIM:242840 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Thrombocytopenia, Recurrent infections, Autoimmune hemolytic anemia |
OMIM:612783 |
Hermansky-Pudlak Syndrome 2 |
|
Recurrent bacterial infections, Neutropenia, Reduced natural killer cell activity, Chronic oral c... |
OMIM:608233 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia... |
OMIM:603585 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent ear infections, Recurrent viral infections, Anemia, Chronic mucocutaneous candidiasis, ... |
ORPHA:79124 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent bacterial infections, Sepsis, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the t... |
OMIM:612541 |
Pemphigus Erythematosus |
|
Autoimmunity, Anti-acetylcholine receptor antibody positivity, Systemic lupus erythematosus, Mala... |
ORPHA:79480 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Recurrent bronchitis |
OMIM:300455 |
Sjogren Syndrome |
|
Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis, Tubulointerstitial nephritis |
OMIM:270150 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent bacterial infections, Leukocytosis, Recurrent staphylococcal infections, Rectal abscess... |
OMIM:116920 |
Igg4-Related Aortitis |
|
Autoimmunity, Increased circulating IgG4 level, Cytoplasmic antineutrophil antibody positivity, I... |
ORPHA:449400 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... |
ORPHA:231154 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Persistent human papillomavirus infection, Cryptococcal meningitis, Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Increased circulating IgA level... |
OMIM:600903 |
Immunodeficiency 68 |
|
Sepsis, B lymphocytopenia, Abscess, T lymphocytopenia, Abnormal natural killer cell count, Recurr... |
OMIM:612260 |
Whim Syndrome |
|
Recurrent bacterial infections, Sepsis, Neutropenia, Decreased circulating antibody level, Mening... |
ORPHA:51636 |
Chédiak-Higashi Syndrome |
|
Recurrent bacterial infections, Abnormal natural killer cell morphology, Neutropenia, Abnormal pl... |
ORPHA:167 |
Immunodeficiency 47 |
|
Recurrent bacterial infections, Decreased circulating total IgA, Normocytic anemia, Decreased cir... |
OMIM:300972 |
Chediak-Higashi Syndrome |
|
Neutropenia, Leukopenia, Recurrent infections, Abnormal dense granules, Giant neutrophil granules... |
OMIM:214500 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections |
OMIM:615978 |
Orotic Aciduria |
|
Hypochromia, Impaired T cell function, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megalo... |
OMIM:258900 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmunity, Eczema, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibod... |
OMIM:615952 |
Bullous Pemphigoid |
|
Psoriasiform dermatitis, Eczema, Autoimmunity |
ORPHA:703 |
Mirage Syndrome |
|
Recurrent bacterial infections, Sepsis, Leukopenia, Anemia, Recurrent urinary tract infections, L... |
OMIM:617053 |
Immunodeficiency 22 |
|
Autoimmunity, Panniculitis |
OMIM:615758 |
Complement Factor I Deficiency |
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Recurrent otitis media, Recurrent urinary tract infections, Recurrent Haemophilus influenzae infe... |
OMIM:610984 |
X-Linked Lymphoproliferative Disease |
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Decreased circulating antibody level, Splenomegaly, Absent natural killer cells, Dysgammaglobulin... |
ORPHA:2442 |
Shwachman-Diamond Syndrome |
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Recurrent bacterial infections, Sepsis, Chronic neutropenia, Macrocytic anemia, Neutropenia, Panc... |
ORPHA:811 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
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Splenomegaly, Recurrent candida infections, Impaired T cell function |
OMIM:201100 |
Immunodeficiency 58 |
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Decreased specific antibody response to vaccination, Helicobacter pylori infection, Recurrent cut... |
OMIM:618131 |
Mannosidosis, Alpha B, Lysosomal |
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Recurrent bacterial infections, Vacuolated lymphocytes, Decreased circulating antibody level, Spl... |
OMIM:248500 |
Immunodeficiency 87 And Autoimmunity |
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Recurrent bacterial infections, Sepsis, Abnormal lymphocyte proliferation, Recurrent fungal infec... |
OMIM:619573 |
Autoimmune Lymphoproliferative Syndrome |
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Autoimmunity, Recurrent aphthous stomatitis, Neutropenia in presence of anti-neutropil antibodies... |
ORPHA:3261 |
Sickle Cell Anemia |
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Recurrent bacterial infections, Leukocytosis, Splenomegaly, Increased red cell sickling tendency,... |
OMIM:603903 |
Kenny-Caffey Syndrome, Type 1 |
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Recurrent bacterial infections, Anemia |
OMIM:244460 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Leukocytosis, Thrombocytosis, Severe varicella zoster infection, Defective T cell proliferation, ... |
OMIM:618213 |
Congenital Disorder Of Glycosylation, Type Iil |
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Impaired T cell function, Recurrent infections, Decreased specific anti-polysaccharide antibody l... |
OMIM:614576 |
Hypocomplementemic Urticarial Vasculitis |
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Recurrent bacterial infections, Meningitis, Splenomegaly |
ORPHA:36412 |
Leukocyte Adhesion Deficiency |
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Recurrent bacterial infections, Sepsis, Leukocytosis, Thrombocytosis, BCGosis, Polycythemia, Recu... |
ORPHA:2968 |
Schimke Immuno-Osseous Dysplasia |
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Decreased proportion of naive CD8 T cells, Neutropenia, Impaired T cell function, Bone marrow hyp... |
ORPHA:1830 |
Obesity Due To Congenital Leptin Deficiency |
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Decreased T cell activation, Decreased proportion of CD4-positive helper T cells |
ORPHA:66628 |
Idiopathic Bronchiectasis |
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Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections |
ORPHA:60033 |
Postinfectious Vasculitis |
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Persistent human papillomavirus infection, Severe varicella zoster infection, Increased circulati... |
ORPHA:48435 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Decreased T cell activation, Decreased proportion of CD4-positive helper T cells |
ORPHA:179494 |
Autoimmune Polyendocrinopathy Type 4 |
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Keratoconjunctivitis sicca, Autoimmunity, Tubulointerstitial nephritis, Atrophic gastritis, Hepat... |
ORPHA:227990 |
Progressive Multifocal Leukoencephalopathy |
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Meningitis, Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T c... |
ORPHA:217260 |
Igg4-Related Thyroid Disease |
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Anti-thyroid peroxidase antibody positivity, Autoimmunity, Increased circulating IgG4 level, Thyr... |
ORPHA:64744 |
Autoimmune Polyendocrinopathy Type 3 |
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Keratoconjunctivitis sicca, Autoimmunity, Tubulointerstitial nephritis, Atrophic gastritis, Hepat... |
ORPHA:227982 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... |
ORPHA:508533 |
Hereditary Orotic Aciduria |
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Anemia, Recurrent respiratory infections, Splenomegaly, Impaired T cell function |
ORPHA:30 |
Primary Ciliary Dyskinesia |
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Asplenia, Recurrent sinopulmonary infections, Recurrent otitis media, Recurrent mycobacterial inf... |
ORPHA:244 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Recurrent bacterial infections |
OMIM:241410 |
Complement Component 5 Deficiency |
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Recurrent meningococcal disease |
OMIM:609536 |
Chromomycosis |
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Recurrent bacterial infections |
ORPHA:182 |
Infantile Systemic Hyalinosis |
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Recurrent bacterial infections |
ORPHA:2176 |
Glycogen Storage Disease Ib |
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Recurrent bacterial infections, Neutropenia |
OMIM:232220 |
Infection-Related Hemolytic Uremic Syndrome |
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Brain abscess, Leukocytosis, Increased circulating interleukin 6, Abnormality of chemokine secret... |
ORPHA:544482 |
Lysinuric Protein Intolerance |
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Recurrent bacterial infections, Leukopenia, Decreased circulating antibody level, Anemia, Increas... |
ORPHA:470 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Recurrent bacterial infections, Abnormal myeloid leukocyte morphology, Anemia, Chronic neutropenia |
ORPHA:79259 |
Atrial Septal Defect, Coronary Sinus Type |
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Recurrent bacterial infections |
ORPHA:99104 |
Atrial Septal Defect, Ostium Secundum Type |
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Recurrent bacterial infections |
ORPHA:99103 |
Sarcoidosis, Susceptibility To, 1 |
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Pancytopenia, Increased circulating antibody level, Abnormality of T cell physiology, Splenomegaly |
OMIM:181000 |
Velocardiofacial Syndrome |
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Recurrent infections, Impaired T cell function |
OMIM:192430 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infections |
ORPHA:2273 |
Progeroid Short Stature With Pigmented Nevi |
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Recurrent viral infections, Impaired T cell function |
OMIM:176690 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Psoriasiform dermatitis, Abnormality of T cell physiology |
ORPHA:2237 |
22Q11.2 Deletion Syndrome |
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Thrombocytopenia, Hypoplasia of the thymus, Splenomegaly, Impaired T cell function |
ORPHA:567 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Anemia, Abscess, Tooth abscess, Recurrent Staphylococcus aureus infections |
ORPHA:642 |
Digeorge Syndrome |
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Recurrent infections, Impaired T cell function |
OMIM:188400 |