UpToDate خرید پکیج
تعداد آیتم قابل مشاهده باقیمانده:
4
September 2025
| Disease | Genetic defect or probable pathogenesis | Inheritance | Mechanism of malignancy formation | Type of malignancy |
| Combined immunodeficiencies | ||||
| Severe combined immunodeficiency | Mutations in IL2RG, JAK3, IL7RA, RAG1, RAG2, DCLRE1C, CORO1A, CD3D, CD3E, CD3Z, PTPRC, PRKDC, ADA, AK2 | AR in most cases, also XL |
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| IL-2-inducible T cell kinase (ITK) deficiency (an EBV-associated lymphoproliferative disease) | Mutations in ITK | AR |
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| Magnesium transporter 1 (MAGT1) deficiency (ie, XMEN) | Mutations in MAGT1 | XL |
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| Other combined immunodeficiency | Mutations in ZAP70, OX40, RHOH, STK4, IKZF2 | AR in most cases, also AD |
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| Well-defined syndromes with immunodeficiency | ||||
| Wiskott-Aldrich syndrome | Mutations in WAS | XL |
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| Ataxia-telangiectasia | Mutations in ATM | AR |
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| Nijmegen breakage syndrome | Mutations in NBS1 | AR |
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| Cartilage-hair hypoplasia | Mutations in RMRP | AR |
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| Autosomal dominant hyperimmunoglobulin E syndrome (AD-HIES) | Mutations in STAT3 | AD |
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| Autosomal recessive hyperimmunoglobulin E syndrome (AR-HIES; DOCK8 deficiency) | Mutations in DOCK8 | AR |
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| Dyskeratosis congenita (telomeropathies) | Mutations in DKC1, TERC, TERT, TINF2, RTEL1, ACD, NOLA2, NOLA3, WRAP53, PARN | AD in most cases, also XL and AR |
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| Bone marrow failures | Mutations in FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCI, FANCL, FANCM, BRCA2, BRIP1, DKCX1, ERCC4, MAD2L2, PALB2, RAD51, RAD51C, RFWD3, SAMD9, SAMD9L, SLX4, UBE2T, XRCC2, XRCC9, SRP72, ERCC6L2, TP53, STN1, CTC1, MECOM | AR in most cases, also AD |
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| NK cell deficiency | Mutations in MCM4, FCGR3A | AR |
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| Other syndromic combined immunodeficiency | Mutations in BLM, PMS2, MSH6, DNMT3B, ZBTB24, CDCA7, HELLS, CARD11, DIAPH1, IKZF3, STIM1 | AR in most cases, also AD |
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| Predominantly antibody deficiencies | ||||
| X-linked agammaglobulinemia | Mutations in BTK | XL |
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| Common variable immunodeficiency | Unknown in most cases; mutations in TNFRSF13B (encodes TACI), TNFRSF13C (encodes BAFF-R), CD19, CD20, CD81, ICOS, PI3KCD, PIK3R1, PTEN | Variable |
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| X-linked hyperimmunoglobulin M syndrome | Mutations in CD40L | XL |
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| IgG subclass deficiency | Unknown | Variable |
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| Selective IgA deficiency | Unknown | Variable |
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| Diseases of immune dysregulation | ||||
| Chediak-Higashi syndrome | Mutations in CHS1 (LYST) gene | AR |
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| Hermansky-Pudlak syndrome, type 2 | Mutations in AP3B1 gene | AR |
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| Perforin deficiency, familial hemophagocytic lymphohistiocytosis, type 2 (FHL2) | Mutation in PRF1 | AR |
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| STXBP2 (Munc 18-2) deficiency, FHL5 | Mutation in STXBP2 | AR |
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| SH2DA1 deficiency, X-linked lymphoproliferative disease (XLP1) | Mutations in SH2D1A | XL |
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| Autoimmune lymphoproliferative syndrome (ALPS) | Mutations in TNFRSF6 | AD (mostly) |
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| Other immune dysregulation | Mutations in CD27, CD70, CTPS1, TNFRSF9, RASGRP1, CARMIL2, TET2, LRBA, CTLA4, IL10, IL10RA, IL10RB | AR in most cases, also AD |
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| Phagocytic defects | ||||
| Severe congenital neutropenia | Mutations in ELANE, HAX 1, CSF3R, WASP | AD, AR, or XL |
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| Shwachman-Diamond syndrome | SBDS: Defective ribosome synthesis | AR |
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| Chronic granulomatous disease | Mutations in gp91phox, p22phox, p47phox, p67phox, p40phox | XL or AR |
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| MonoMAC syndrome | GATA2: Loss of stem cells | AD |
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| Defects in innate immunity | ||||
| WHIM syndrome | Mutations in CXCR4 | AD |
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| Epidermodysplasia verruciformis | Mutations in EVER1, EVER2 | AR |
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| Other innate immunity | Mutations in IFNGR1, HAVCR2, SYK | AR in most cases, also AD |
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