Complement Component 4, Partial Deficiency Of |
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Systemic lupus erythematosus |
OMIM:120790 |
Autoimmune Disease |
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Autoimmune antibody positivity, Autoimmunity |
OMIM:109100 |
Pemphigus Vulgaris, Familial |
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Autoimmune antibody positivity, Autoimmunity |
OMIM:169610 |
Hashimoto Thyroiditis |
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Autoimmune antibody positivity, Hashimoto thyroiditis |
OMIM:140300 |
Tn Polyagglutination Syndrome |
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Autoimmunity |
OMIM:300622 |
Retinal Telangiectasia And Hypogammaglobulinemia |
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Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Complement Component 8 Deficiency, Type I |
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Systemic lupus erythematosus |
OMIM:613790 |
Systemic Lupus Erythematosus 16 |
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Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib... |
OMIM:614420 |
Monocyte Chemotactic Disorder |
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Cutaneous anergy |
OMIM:252250 |
Immunodeficiency, Common Variable, 5 |
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Antinuclear antibody positivity, Chronic decreased circulating total IgG |
OMIM:613495 |
Complement Component C1S Deficiency |
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Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
C1Q Deficiency 1 |
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Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
Complement Component 2 Deficiency |
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Systemic lupus erythematosus |
OMIM:217000 |
Immunoglobulin A Deficiency 2 |
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Autoimmunity, Decreased circulating IgA level |
OMIM:609529 |
Immunoglobulin A Deficiency 1 |
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Autoimmunity, Decreased circulating IgA level |
OMIM:137100 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
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Abnormality of T cell physiology |
OMIM:308220 |
Autoimmune Lymphoproliferative Syndrome |
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Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, In... |
OMIM:601859 |
Insulin Autoimmune Syndrome |
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Autoimmune antibody positivity, Increased circulating antibody level, Autoimmunity, Systemic lupu... |
ORPHA:411593 |
Candidiasis, Familial, 1 |
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Cutaneous anergy |
OMIM:114580 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Autoimmunity, Decreased specific pneumococcal antibody level |
OMIM:617006 |
Caspase 8 Deficiency |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Immunodeficiency 89 And Autoimmunity |
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Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Eosinophilopenia |
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Autoimmunity |
OMIM:131430 |
Immunodeficiency 11A |
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Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... |
OMIM:615206 |
Immunodeficiency 64 With Lymphoproliferation |
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Autoimmune hemolytic anemia, Increased circulating IgA level, Autoimmune thrombocytopenia, Antinu... |
OMIM:618534 |
Diabetes Mellitus, Ketosis-Prone |
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Autoimmunity |
OMIM:612227 |
Immunodeficiency, Common Variable, 2 |
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Autoimmunity, Impaired T cell function, Decreased circulating IgG level, Partial absence of speci... |
OMIM:240500 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Autoimmune hemolytic anemia, Autoimmunity, Systemic lupus erythematosus, Autoimmune thrombocytopenia |
ORPHA:444463 |
Immunodeficiency 25 |
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Autoimmune hemolytic anemia, Increased circulating IgA level, Increased circulating IgE level, In... |
OMIM:610163 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Anti-thyroid peroxidase antibody positivity, Increased circulating IgE level, Autoimmunity, Lack ... |
ORPHA:277 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, In... |
OMIM:603909 |
Reticular Dysgenesis |
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Impaired T cell function, Lack of T cell function |
OMIM:267500 |
Subcorneal Pustular Dermatosis |
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Increased circulating antibody level, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythema... |
ORPHA:48377 |
Immunodeficiency, Common Variable, 1 |
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Impaired T cell function, Neutropenia in presence of anti-neutropil antibodies, Decreased circula... |
OMIM:607594 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Decreased T cell activation, Decreased specific anti-polysaccharide antibody level, Decreased CD6... |
OMIM:300853 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Decreased lymphocyte apoptosis, Increased circulating antibody level, Autoimmunity, Autoimmune th... |
OMIM:614470 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Cutaneous anergy |
OMIM:183350 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve... |
OMIM:617241 |
Pemphigus Erythematosus |
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Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S... |
ORPHA:79480 |
Sjogren Syndrome |
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Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
Igg4-Related Aortitis |
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Autoimmunity, Increased circulating IgG4 level, Antinuclear antibody positivity, Cytoplasmic anti... |
ORPHA:449400 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
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Autoimmunity, Decreased circulating IgG level, Juvenile rheumatoid arthritis, Hashimoto thyroidit... |
ORPHA:275 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmunity |
ORPHA:231154 |
Macrophage Activation Syndrome |
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Increased circulating interleukin 6 concentration, Autoimmunity, Increased circulating interferon... |
ORPHA:158061 |
Oligoarticular Juvenile Idiopathic Arthritis |
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Autoimmunity, Antinuclear antibody positivity, Increased circulating interferon-gamma concentrati... |
ORPHA:85410 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Neutropenia in presence o... |
ORPHA:572 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Autoimmune hemolytic anemia, Autoimmunity, Decreased circulating antibody level, Decreased circul... |
ORPHA:331206 |
Vulvovaginal Gingival Syndrome |
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Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im... |
OMIM:308230 |
Adult Acute Respiratory Distress Syndrome |
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Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
Familial Hemophagocytic Lymphohistiocytosis |
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Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, Increase... |
ORPHA:540 |
Acute Lung Injury |
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Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Abnormali... |
ORPHA:178320 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Cutaneous anergy, Panhypogammaglobulinemia, Decreased lymphocyte proliferation in response to ant... |
OMIM:600802 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Increased circulating interleukin 6 concentration, Abnormality of interleukin secretion, Abnormal... |
ORPHA:542323 |
Purine Nucleoside Phosphorylase Deficiency |
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Autoimmune hemolytic anemia, Impaired T cell function, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:613179 |
Aregenerative Anemia |
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Abnormality of interleukin secretion, Bone marrow hypocellularity |
ORPHA:101096 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Partial IgA deficiency, Lack of T cell function, Decreased circulating total IgM, Decreased lymph... |
ORPHA:35078 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Oligoclonal T cell expansion, Autoimmunity, Decreased lymphocyte proliferation in response to mit... |
ORPHA:83471 |
Wiskott-Aldrich Syndrome |
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Autoimmune hemolytic anemia, Reduced natural killer cell activity, Increased circulating IgA leve... |
OMIM:301000 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
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Antinuclear antibody positivity, Autoimmunity, Abnormality of tumor necrosis factor secretion |
ORPHA:85436 |
Parenteral Nutrition-Associated Cholestasis |
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Abnormality of cytokine secretion |
ORPHA:567983 |
Orotic Aciduria |
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Impaired T cell function |
OMIM:258900 |
Hereditary Orotic Aciduria |
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Impaired T cell function |
ORPHA:30 |
Sarcoidosis, Susceptibility To, 1 |
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Abnormality of T cell physiology, Increased circulating antibody level |
OMIM:181000 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Abnormality of T cell physiology |
ORPHA:2237 |
Narcolepsy 7 |
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OMIM:614250 |
Narcolepsy Type 1 |
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ORPHA:2073 |