Immunodeficiency 24 |
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Decreased circulating IgG level, Lymphoproliferative disorder, Defective T cell proliferation, Re... |
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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Impaired T cell function, Lymphoma, Recurrent pneumonia, Bronchiectasis, Neoplasm, Conjunctivitis... |
OMIM:240500 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Lymphoproliferative disorder, B-cell lymphoma, Lymphoma, Decreased specific anti-polysaccharide a... |
OMIM:300853 |
Caspase 8 Deficiency |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Candidiasis, Familial, 1 |
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Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
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Abnormality of T cell physiology |
OMIM:308220 |
Sweet Syndrome |
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Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... |
ORPHA:3243 |
Familial Hemophagocytic Lymphohistiocytosis |
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Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Reduced na... |
ORPHA:540 |
Immunodeficiency, Common Variable, 1 |
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Impaired T cell function, Pneumonia, Recurrent pneumonia, Bronchiectasis, Decreased circulating t... |
OMIM:607594 |
Adult Acute Respiratory Distress Syndrome |
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Increased circulating interleukin 6 concentration, Pneumonia, Abnormal circulating interleukin co... |
ORPHA:70578 |
Acute Lung Injury |
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Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Abnormality of ... |
ORPHA:178320 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Inflammatory abnormality of the skin, Sinusitis, Increased circulating IgE level, Recurrent pneum... |
ORPHA:277 |
Vulvovaginal Gingival Syndrome |
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Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Eczema, Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specifi... |
OMIM:617241 |
Macrophage Activation Syndrome |
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Increased inflammatory response, Increased circulating interleukin 6 concentration, Hepatitis, In... |
ORPHA:158061 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im... |
OMIM:308230 |
Immunodeficiency 58 |
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Recurrent cutaneous abscess formation, Dysuria, Eczema, Allergic rhinitis, Seborrheic dermatitis,... |
OMIM:618131 |
Griscelli Syndrome, Type 2 |
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Reduced delayed hypersensitivity |
OMIM:607624 |
Reticular Dysgenesis |
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Impaired T cell function, Lack of T cell function |
OMIM:267500 |
Immunodeficiency 96 |
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Multicystic kidney dysplasia, Eczema, Decreased circulating total IgM, Defective T cell prolifera... |
OMIM:619774 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
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Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... |
ORPHA:85436 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Sinusitis, Skin rash, Acute otitis media, Lack of T cell function, Decreased circulating antibody... |
ORPHA:572 |
Roifman Syndrome |
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Eczema, Recurrent pneumonia, Decreased circulating antibody level, Recurrent otitis media, Decrea... |
ORPHA:353298 |
Bare Lymphocyte Syndrome, Type Ii |
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Viral hepatitis, Cholangitis, Chronic mucocutaneous candidiasis, Agammaglobulinemia, Colitis, Cut... |
OMIM:209920 |
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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Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:601859 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, In... |
ORPHA:542323 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Increased circulating IgA level, Increased circulating IgG level, Nephrotic syndrome, Increased c... |
OMIM:603909 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Skin rash, Partial IgA deficiency, Pustule, Acute otitis media, Recurrent pneumonia, Lack of T ce... |
ORPHA:35078 |
Purine Nucleoside Phosphorylase Deficiency |
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Sinusitis, Impaired T cell function, Pneumonia, Lymphoma, Otitis media, Decreased lymphocyte prol... |
OMIM:613179 |
Schimke Immuno-Osseous Dysplasia |
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Lymphoproliferative disorder, Proteinuria, Impaired T cell function, Minimal change glomeruloneph... |
ORPHA:1830 |
Congenital Disorder Of Glycosylation, Type Iil |
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Impaired T cell function, Unilateral renal agenesis, Decreased specific anti-polysaccharide antib... |
OMIM:614576 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Pneumonia, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media, Cu... |
OMIM:600802 |
Wiskott-Aldrich Syndrome |
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Lymphoproliferative disorder, Eczema, Increased circulating IgA level, Reduced natural killer cel... |
OMIM:301000 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Recurrent pneumonia, Bronchiectasis, Pyoderma, Reduced delayed hypersensitivity, Eczematoid derma... |
OMIM:242700 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Decreased lymphocyte prolifer... |
ORPHA:83471 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Eosinophilic infiltration of the esophagus, Perianal abscess, Increased circulating IgE level, Pa... |
OMIM:618213 |
Aregenerative Anemia |
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Abnormality of interleukin secretion, Bone marrow hypocellularity |
ORPHA:101096 |
Hereditary Orotic Aciduria |
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Orotic acid crystalluria, Impaired T cell function, Abnormality of the ureter, Aminoaciduria, Oro... |
ORPHA:30 |
Sarcoidosis, Susceptibility To, 1 |
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Abnormality of T cell physiology, Iridocyclitis, Hypercalciuria, Uveitis, Bronchiectasis, Arthrit... |
OMIM:181000 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Renal insufficiency, Abnormality of T cell physiology, Psoriasiform dermatitis, Unilateral renal ... |
ORPHA:2237 |
Vici Syndrome |
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Decreased circulating IgG level, Decreased T cell activation, Chronic mucocutaneous candidiasis, ... |
OMIM:242840 |
Orotic Aciduria |
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Hematuria, Oroticaciduria, Orotic acid crystalluria, 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, Allergic rhinitis, Impaired T cell function, Allergic conjunctivitis, Chordee |
OMIM:176690 |
22Q11.2 Deletion Syndrome |
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Hypospadias, Impaired T cell function, Acne, Seborrheic dermatitis, Renal hypoplasia, Arthritis, ... |
ORPHA:567 |
Velocardiofacial Syndrome |
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Impaired T cell function |
OMIM:192430 |
Digeorge Syndrome |
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Renal insufficiency, Acne, Impaired T cell function, Unilateral renal agenesis, Seborrheic dermat... |
OMIM:188400 |