Immunodeficiency 24 |
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Defective T cell proliferation, 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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Chronic mucocutaneous candidiasis, Cutaneous anergy |
OMIM:252250 |
Immunodeficiency, Common Variable, 2 |
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Recurrent otitis media, Partial absence of specific antibody response to unconjugated pneumococcu... |
OMIM:240500 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
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Recurrent otitis media, Increased circulating interleukin 6 concentration, Increased circulating ... |
OMIM:618944 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Lymphoma, Hodgkin ... |
OMIM:300853 |
Caspase 8 Deficiency |
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Reduced CD95-induced lymphocyte apoptosis, Complete or near-complete absence of specific antibody... |
OMIM:607271 |
Candidiasis, Familial, 1 |
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Chronic mucocutaneous candidiasis, Cutaneous anergy |
OMIM:114580 |
Sweet Syndrome |
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Acne, Increased circulating interleukin 6 concentration, Acute myeloid leukemia, Panniculitis, Ch... |
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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Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, I... |
ORPHA:540 |
Adult Acute Respiratory Distress Syndrome |
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Pancreatitis, Increased circulating interleukin 6 concentration, Abnormal circulating interleukin... |
ORPHA:70578 |
Immunodeficiency, Common Variable, 1 |
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Recurrent otitis media, Impaired T cell function, Bronchiectasis, Decreased circulating IgG level... |
OMIM:607594 |
Acute Lung Injury |
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Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, A... |
ORPHA:178320 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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T-cell lymphoma, Acute myeloid leukemia, Squamous cell carcinoma, Hepatocellular carcinoma, Neopl... |
ORPHA:158057 |
Immunodeficiency 89 And Autoimmunity |
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Reduced circulating interleukin 23 concentration, Reduced circulating interleukin 22 concentratio... |
OMIM:619632 |
Macrophage Activation Syndrome |
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Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... |
ORPHA:158061 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Reduced delayed hypersensitivity, Increased circulating IgE level, Reduced antigen-specific T cel... |
OMIM:617241 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Recurrent otitis media, Increased circulating IgE level, Lack of T cell function, Sinusitis, Recu... |
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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Chronic oral candidiasis, Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis... |
OMIM:308230 |
Immunodeficiency 58 |
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Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic mucocutaneous... |
OMIM:618131 |
Autoimmune Lymphoproliferative Syndrome |
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Increased circulating antibody level, Neoplasm of the tongue, Neoplasm of the skin, Bone marrow h... |
ORPHA:3261 |
Reticular Dysgenesis |
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Lack of T cell function, Impaired T cell function |
OMIM:267500 |
Griscelli Syndrome, Type 2 |
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Reduced delayed hypersensitivity |
OMIM:607624 |
Interstitial Cystitis |
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Pollakisuria, Dysuria, Urinary urgency, Functional abnormality of the bladder, Nocturia, Abnormal... |
ORPHA:37202 |
Immunodeficiency 96 |
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Defective T cell proliferation, Recurrent otitis media, Eczematoid dermatitis, Decreased circulat... |
OMIM:619774 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
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Symmetric polyarthritis, Abnormal circulating interleukin concentration, Arthritis, Synovitis |
ORPHA:85435 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Acute otitis media, Sclerosing cholangitis, Panhypogammaglobulinemia, Skin rash, Decreased circul... |
ORPHA:572 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
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Iritis, Malar rash, Skin rash, Oligoarthritis, Sacroiliac arthritis, Enthesitis, Iridocyclitis, A... |
ORPHA:85436 |
Bare Lymphocyte Syndrome, Type Ii |
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Cholangitis, Panhypogammaglobulinemia, Chronic mucocutaneous candidiasis, Cutaneous anergy, Viral... |
OMIM:209920 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
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Pneumonia, Salmonella osteomyelitis, Abnormal circulating interleukin concentration, Lymphadenitis |
ORPHA:319552 |
Oligoarticular Juvenile Idiopathic Arthritis |
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Increased circulating interferon-gamma concentration, Arthritis, Knee osteoarthritis, Uveitis, Rh... |
ORPHA:85410 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Abnormal circulating cytokine concentration, Acute kidney injury, Increased circulating interleuk... |
ORPHA:542323 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Cutaneous anergy |
OMIM:183350 |
Autoimmune Lymphoproliferative Syndrome |
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Reduced delayed hypersensitivity, Increased circulating IgG level, Increased circulating IgA leve... |
OMIM:601859 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Reduced delayed hypersensitivity, Increased circulating IgG level, Malar rash, Increased circulat... |
OMIM:603909 |
Purine Nucleoside Phosphorylase Deficiency |
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Elevated urinary inosine level, Decreased urinary urate, Lymphoma, Impaired T cell function, Elev... |
OMIM:613179 |
Schimke Immuno-Osseous Dysplasia |
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Pancreatitis, Minimal change glomerulonephritis, Nephrotic range proteinuria, Abnormal lymphocyte... |
ORPHA:1830 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Chronic oral candidiasis, Acute otitis media, Skin rash, Lack of T cell function, Partial IgA def... |
ORPHA:35078 |
Congenital Disorder Of Glycosylation, Type Iil |
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Decreased specific anti-polysaccharide antibody level, Unilateral renal agenesis, Proximal tubulo... |
OMIM:614576 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Recurrent otitis media, Panhypogammaglobulinemia, Cutaneous anergy, Pneumonia, Abnormality of B c... |
OMIM:600802 |
Wiskott-Aldrich Syndrome |
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Decreased specific anti-polysaccharide antibody level, Abnormal delayed hypersensitivity skin tes... |
OMIM:301000 |
New-Onset Refractory Status Epilepticus |
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Abnormal circulating interleukin concentration, Infectious encephalitis |
ORPHA:363558 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Abnormal circulating interferon-gamma concentration, Panhypogammaglobulinemia, Chronic mucocutane... |
ORPHA:79124 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Defective T cell proliferation, Perianal abscess, Increased circulating IgG level, Pancolitis, In... |
OMIM:618213 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Reduced delayed hypersensitivity, Pyoderma, Eczematoid dermatitis, Recurrent pneumonia, Bronchiec... |
OMIM:242700 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Chronic otitis media, Chronic oral candidiasis, Thyroiditis, Eczematoid dermatitis, Sinusitis, At... |
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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Oroticaciduria, Impaired T cell function, Abnormality of the ureter, Orotic acid crystalluria, Am... |
ORPHA:30 |
Sarcoidosis, Susceptibility To, 1 |
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Increased circulating antibody level, Hypercalciuria, Arthritis, Bronchiectasis, Inflammation of ... |
OMIM:181000 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ab... |
ORPHA:2237 |
Vici Syndrome |
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Chronic mucocutaneous candidiasis, Cutaneous anergy, Decreased circulating IgG level, Penile hypo... |
OMIM:242840 |
Orotic Aciduria |
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Orotic acid crystalluria, Oroticaciduria, Hematuria, Impaired T cell function |
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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Hypospadias, Impaired T cell function, Chordee, Allergic conjunctivitis, Allergic rhinitis |
OMIM:176690 |
22Q11.2 Deletion Syndrome |
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Chronic otitis media, Hypospadias, Polycystic kidney dysplasia, Seborrheic dermatitis, Vesicouret... |
ORPHA:567 |
Velocardiofacial Syndrome |
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Impaired T cell function |
OMIM:192430 |
Digeorge Syndrome |
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Recurrent otitis media, Unilateral renal agenesis, Seborrheic dermatitis, Impaired T cell functio... |
OMIM:188400 |