Version June 2024
| 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 |
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