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, and AK2 | AR in most cases, also XL | Probably impaired function of immune system and decreased viral clearance (EBV) | NHL, Hodgkin lymphoma, leukemia Multiple renal and pulmonary leiomyomata EBV-associated lymphoma (Artemis) Burkitt lymphoma (ADA deficiency treated with PEG-ADA) |
ITK deficiency (an EBV-associated lymphoproliferative disease) | Mutations in ITK (IL-2-inducible T cell kinase) | AR | Impaired function of immune system, decreased viral clearance (EBV) | Lymphoma |
MAGT1 deficiency (ie, XMEN) | Mutations in MAGT1 (magnesium transporter 1) | XL | Lymphoma | |
Well-defined syndromes with immunodeficiency | ||||
Wiskott-Aldrich syndrome | Mutations in WAS | XL | Impaired function of immune system, decreased viral clearance (EBV), probably impaired genetic stability | Diffuse large B cell lymphomas, NHL of larynx, leukemia, cerebellar astrocytoma, Kaposi sarcoma, smooth muscle tumors |
Ataxia-telangiectasia | Mutations in ATM | AR | Impaired genetic stability | Lymphoid leukemias, lymphomas (both B and T cell, NHL), epithelial tumors |
Nijmegen breakage syndrome | Mutations in NBS1 | AR | Impaired genetic stability | Brain tumors, lymphomas (both B and T, NHL, DLBCL and T-LBL), leukemia |
Cartilage-hair hypoplasia | Mutations in RMRP | AR | NHL basal cell carcinoma | |
Autosomal dominant hyperimmunoglobulin E syndrome (AD-HIES) | Mutations in STAT3 | AD | NHL, squamous cell carcinoma of the vulva, pulmonary adenocarcinoma with liver, bone, and spinal cord metastases | |
AR-HIES (DOCK8 deficiency) | Mutations in DOCK8 | AR | Probably defective tumor suppression genes in DOCK8 deficiency | Squamous cell carcinoma, cutaneous T cell lymphoma/leukemia, Burkitt lymphoma |
Predominantly antibody deficiencies | ||||
X-linked agammaglobulinemia | Mutations in BTK | XL | Lymphoproliferative disorders, gastric adenocarcinoma, colorectal cancer | |
Common variable immunodeficiency | Unknown in most cases, mutations in TNFRSF13B (encodes TACI), TNFRSF13C (encodes BAFF-R), CD19, CD20, CD81, and ICOS | Variable | Probably defective tumor suppression genes | NHL, epithelial tumors (carcinomas of stomach, breast, bladder, cervix), carcinoma of the vulva (ICOS deficiency), tonsillar carcinoma of epithelial origin (TNFRSF13B) |
X-linked hyperimmunoglobulin M syndrome | Mutations in CD40L | XL | Probably defective clearance of Cryptosporidium | Carcinomas of the liver, pancreas, biliary tract and associated neuroectodermal endocrine cells |
IgG subclass deficiency | Unknown | Variable | Lymphoma | |
Selective IgA deficiency | Unknown | Variable | Lymphoma, gastrointestinal carcinoma | |
Diseases of immune dysregulation | ||||
Chediak-Higashi syndrome | Mutations in CHS1 (LYST) gene | AR | Lymphoma | |
Hermansky-Pudlak syndrome, type 2 | Mutations in AP3B1 gene | AR | Lymphoma | |
Perforin deficiency, Familial hemophagocytic lymphohistiocytosis, type 2 (FHL2) | Mutation in PRF1 | AR | Lymphoma | |
STXBP2 (Munc 18-2) deficiency, FHL5 | Mutation in STXBP2 | AR | Lymphoma | |
SH2DA1 deficiency, X-linked lymphoproliferative disease (XLP1) | Mutations in SH2D1A | XL | Impaired function of immune system, decreased viral clearance (EBV) | Hodgkin B cell lymphoma, NHL in the intestinal region |
Autoimmune lymphoproliferative syndrome (ALPS) | Mutations in TNFRSF6 | AD (mostly) | Probably defective tumor suppression genes | Hodgkin lymphoma and NHL |
Phagocytic defects | ||||
Severe congenital neutropenia | Mutations in ELANE, HAX 1, and WASP | AD, AR, or XL | Genetic predisposition, iatrogenic (G-CSF treatment) | Leukemia |
Shwachman-Diamond syndrome | SBDS: Defective ribosome synthesis | AR | Probably iatrogenic (G-CSF treatment) | Leukemia |
Chronic granulomatous disease | Mutations in gp91phox, p22phox, p47phox, p67phox, and p40phox | XL or AR | Lymphoma, leukemia, retinoblastoma, melanoma, rhabdomyosarcoma of the liver, glioblastoma multiforme | |
MonoMAC syndrome | GATA2: Loss of stem cells | AD | AML, CML, vulvar carcinoma, metastatic melanoma, cervical carcinoma, Bowen disease of the vulva, leiomyosarcoma | |
Defects in innate immunity | ||||
WHIM syndrome | Mutations in CXCR4 | AD | Decreased viral clearance | HPV-related cancers, lymphoma |
Epidermodysplasia verruciformis | Mutations in EVER1 and EVER2 | AR | Impaired function of immune system, decreased viral clearance (HPV), probably impaired genetic stability | Squamous cell carcinoma |
Do you want to add Medilib to your home screen?