Immunodeficiency 24 |
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Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:615897 |
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 |
Immunodeficiency, Common Variable, 2 |
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Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Lymphoma, Recurre... |
OMIM:240500 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
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Decreased circulating IgG level, Atopic dermatitis, Cutaneous abscess, Increased circulating IgE ... |
OMIM:618944 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Decreased specific anti-polysaccharide antibody level, Lymphoma, Recurrent otitis media, Recurren... |
OMIM:300853 |
Caspase 8 Deficiency |
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Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve... |
OMIM:607271 |
Candidiasis, Familial, 1 |
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Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Sweet Syndrome |
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Abnormal circulating interleukin concentration, Inflammation of the large intestine, Acne inversa... |
ORPHA:3243 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
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Abnormality of T cell physiology |
OMIM:308220 |
Familial Hemophagocytic Lymphohistiocytosis |
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Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... |
ORPHA:540 |
Adult Acute Respiratory Distress Syndrome |
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Pneumonia, Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor s... |
ORPHA:70578 |
Immunodeficiency, Common Variable, 1 |
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Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurr... |
OMIM:607594 |
Acute Lung Injury |
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Pneumonia, Abnormality of tumor necrosis factor secretion, Abnormal circulating cytokine concentr... |
ORPHA:178320 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Abnormal circulating interleukin concentration, Colon cancer, Burkitt lymphoma, Myelodysplasia, P... |
ORPHA:158057 |
Immunodeficiency 89 And Autoimmunity |
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Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
Macrophage Activation Syndrome |
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Abnormal circulating interleukin concentration, Hepatitis, Abnormality of tumor necrosis factor s... |
ORPHA:158061 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Eczematoid dermatitis, Increased circulating IgE level, Reduced delayed hypersensitivity, Reduced... |
OMIM:617241 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Recurrent pneumonia, Inflammatory abnormality of the skin, Lack of T cell function, Increased cir... |
ORPHA:277 |
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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Decreased circulating IgG level, Impaired memory B cell generation, Hepatitis, Abnormal circulati... |
OMIM:308230 |
Immunodeficiency 58 |
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Allergic rhinitis, Recurrent pneumonia, Verrucae, Bronchiectasis, Eczematoid dermatitis, Cutaneou... |
OMIM:618131 |
Autoimmune Lymphoproliferative Syndrome |
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Neoplasm of the skin, Increased circulating IgE level, Increased circulating antibody level, Hodg... |
ORPHA:3261 |
Reticular Dysgenesis |
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Impaired T cell function, Lack of T cell function |
OMIM:267500 |
Griscelli Syndrome, Type 2 |
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Reduced delayed hypersensitivity |
OMIM:607624 |
Interstitial Cystitis |
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Functional abnormality of the bladder, Abnormality of the urethra, Urinary bladder inflammation, ... |
ORPHA:37202 |
Immunodeficiency 96 |
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Decreased circulating IgG level, Multicystic kidney dysplasia, Eczematoid dermatitis, Recurrent o... |
OMIM:619774 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
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Synovitis, Abnormal circulating interleukin concentration, Arthritis, Symmetric polyarthritis |
ORPHA:85435 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Decreased lymphocyte proliferation in response to mitogen, Chronic mucocutaneous candidiasis, Lac... |
ORPHA:572 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
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Uveitis, Abnormality of tumor necrosis factor secretion, Sacroiliac arthritis, Psoriasiform derma... |
ORPHA:85436 |
Mhc Class Ii Deficiency 1 |
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Cutaneous anergy, Chronic mucocutaneous candidiasis, Panhypogammaglobulinemia, Infectious encepha... |
OMIM:209920 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
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Pneumonia, Abnormal circulating interleukin concentration, Salmonella osteomyelitis, Lymphadenitis |
ORPHA:319552 |
Oligoarticular Juvenile Idiopathic Arthritis |
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Abnormal circulating interleukin concentration, Rheumatoid arthritis, Increased circulating inter... |
ORPHA:85410 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Cutaneous anergy |
OMIM:183350 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Abnormal circulating interleukin concentration, Acute kidney injury, Increased circulating interf... |
ORPHA:542323 |
Autoimmune Lymphoproliferative Syndrome |
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Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve... |
OMIM:601859 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Nephritis, Nephrotic syndrome, Reduced delayed hypersensitivity, Malar rash, Increased circulatin... |
OMIM:603909 |
Purine Nucleoside Phosphorylase Deficiency |
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Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Decreased urinary urate, Im... |
OMIM:613179 |
Schimke Immuno-Osseous Dysplasia |
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Nephropathy, Bone marrow hypocellularity, Minimal change glomerulonephritis, Focal segmental glom... |
ORPHA:1830 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... |
ORPHA:35078 |
Congenital Disorder Of Glycosylation, Type Iil |
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Unilateral renal agenesis, Inflammation of the large intestine, Proximal tubulopathy, Decreased s... |
OMIM:614576 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Pneumonia, Cutaneous anergy, Decreased lymphocyte proliferation in response to anti-CD3, Panhypog... |
OMIM:600802 |
Wiskott-Aldrich Syndrome |
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Nephropathy, Inflammation of the large intestine, Recurrent pneumonia, Decreased specific anti-po... |
OMIM:301000 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Abnormal circulating interleukin concentration, Chronic mucocutaneous candidiasis, Urinary retent... |
ORPHA:79124 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Increased circulating IgE level, Pancolitis, Decreased T cell activation, Eosinophilic infiltrati... |
OMIM:618213 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Recurrent pneumonia, Eczematoid dermatitis, Reduced delayed hypersensitivity, Pyoderma, Bronchiec... |
OMIM:242700 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Eczematoid dermatitis, Atyp... |
ORPHA:83471 |
Intrahepatic Cholestasis Of Pregnancy |
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Abnormal circulating interleukin concentration, Cholecystitis |
ORPHA:69665 |
Aregenerative Anemia |
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Bone marrow hypocellularity, Abnormal circulating interleukin concentration |
ORPHA:101096 |
Hereditary Orotic Aciduria |
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Aminoaciduria, Impaired T cell function, Oroticaciduria, Abnormality of the ureter, Orotic acid c... |
ORPHA:30 |
Sarcoidosis, Susceptibility To, 1 |
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Inflammation of the large intestine, Abnormality of T cell physiology, Increased circulating anti... |
OMIM:181000 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Unilateral renal agenesis, Psoriasiform dermatitis, Vesicoureteral reflux, Abnormality of T cell ... |
ORPHA:2237 |
Vici Syndrome |
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Decreased circulating IgG level, Cutaneous anergy, Chronic mucocutaneous candidiasis, Decreased c... |
OMIM:242840 |
Orotic Aciduria |
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Oroticaciduria, Hematuria, Impaired T cell function, Orotic acid crystalluria |
OMIM:258900 |
Obesity Due To Congenital Leptin Deficiency |
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Decreased T cell activation |
ORPHA:66628 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Decreased T cell activation |
ORPHA:179494 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
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Impaired T cell function |
OMIM:201100 |
Progeroid Short Stature With Pigmented Nevi |
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Allergic rhinitis, Impaired T cell function, Allergic conjunctivitis, Chordee, Hypospadias |
OMIM:176690 |
22Q11.2 Deletion Syndrome |
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Acne, Renal hypoplasia, Impaired T cell function, Vesicoureteral reflux, Seborrheic dermatitis, M... |
ORPHA:567 |
Velocardiofacial Syndrome |
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Impaired T cell function |
OMIM:192430 |
Digeorge Syndrome |
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Unilateral renal agenesis, Recurrent pneumonia, Impaired T cell function, Recurrent otitis media,... |
OMIM:188400 |