IEIs associated with malignancies
| Number . | IUIS category . | Examples . | Associated malignancies . | ||||
|---|---|---|---|---|---|---|---|
| B- or T-cell lymphomas (reference) . | HPV-driven cancers . | Myelodysplastic syndrome and/or myeloid leukemia . | Gastric adenocarcinoma or lymphoma . | Other . | |||
| 1 | Immunodeficiencies affecting cellular and humoral immunity | SCID | SCID (ADA, RAG1, LIG4, DCLRE1C, coronin 1a) ZAP70 | — | — | — | OX40 deficiency (KS) CD40L (cholangio carcinoma) |
| 2 | Combined immunodeficiencies with associated or syndromic features | WAS Ataxia- telangiectasia | WAS DOCK8 deficiency CARD11 autosomal dominant loss of function Ataxia-telangiectasia Nijmegen breakage syndrome Bloom syndrome Immunodeficiency with centromeric instability and facial anomalies Schimke immuno- osseous dysplasia Cartilage hair hypoplasia DiGeorge syndrome CHARGE syndrome PNP deficiency | — | — | Ataxia-telangiectasia | Ataxia-telangiectasia (breast, thyroid, liver, brain, acute lymphoblastic leukemia) |
| 3 | Predominantly antibody deficiencies | CVID | APDS CVID Selective IgA deficiency | — | — | CVID Selective IgA deficiency | — |
| 4 | Diseases of immune dysregulation | ALPS IPEX HLH | ALPS X-linked lymphoproliferative disease type 1 XMEN ITK deficiency CD27/CD70 deficiency CTPS1 deficiency IL10R deficiency | — | — | — | — |
| 5 | Congenital defects of phagocyte number or function | Chronic granulomatous disease Severe congenital neutropenia Leukocyte adhesion deficiency | — | GATA2 deficiency | GATA2 deficiency Severe congenital neutropenia (ELANE, HAX1, other) Shwachman-Diamond syndrome X-linked neutropenia due to gain of function mutations in WAS SMARCAD2 | — | — |
| 6 | Defects in intrinsic and innate immunity | IL-12 and interferon γ pathway defects | WHIM syndrome | Epidermodysplasia verruciformis WHIM syndrome | — | — | — |
| 7 | Autoinflammatory disorders | Familial Mediterranean fever Aicardi-Goutieres syndrome | — | — | — | — | — |
| 8 | Complement deficiencies | Hereditary angioedema | — | — | — | — | — |
| 9 | Bone marrow failure | Fanconi anemia Dyskeratosis congenita | Dyskeratosis congenita | — | Fanconi anemia Dyskeratosis congenita Coats plus syndrome MIRAGE (SAMD9) Ataxia pancytopenia syndrome (SAMD9L) | — | Fanconi anemia (breast, skin, head and neck, other) |
| 10 | Phenocopies of IEI | Somatic mutations leading to ALPS RAS- associated autoimmune leukopro- liferative disease | — | — | — | — | — |
| Number . | IUIS category . | Examples . | Associated malignancies . | ||||
|---|---|---|---|---|---|---|---|
| B- or T-cell lymphomas (reference) . | HPV-driven cancers . | Myelodysplastic syndrome and/or myeloid leukemia . | Gastric adenocarcinoma or lymphoma . | Other . | |||
| 1 | Immunodeficiencies affecting cellular and humoral immunity | SCID | SCID (ADA, RAG1, LIG4, DCLRE1C, coronin 1a) ZAP70 | — | — | — | OX40 deficiency (KS) CD40L (cholangio carcinoma) |
| 2 | Combined immunodeficiencies with associated or syndromic features | WAS Ataxia- telangiectasia | WAS DOCK8 deficiency CARD11 autosomal dominant loss of function Ataxia-telangiectasia Nijmegen breakage syndrome Bloom syndrome Immunodeficiency with centromeric instability and facial anomalies Schimke immuno- osseous dysplasia Cartilage hair hypoplasia DiGeorge syndrome CHARGE syndrome PNP deficiency | — | — | Ataxia-telangiectasia | Ataxia-telangiectasia (breast, thyroid, liver, brain, acute lymphoblastic leukemia) |
| 3 | Predominantly antibody deficiencies | CVID | APDS CVID Selective IgA deficiency | — | — | CVID Selective IgA deficiency | — |
| 4 | Diseases of immune dysregulation | ALPS IPEX HLH | ALPS X-linked lymphoproliferative disease type 1 XMEN ITK deficiency CD27/CD70 deficiency CTPS1 deficiency IL10R deficiency | — | — | — | — |
| 5 | Congenital defects of phagocyte number or function | Chronic granulomatous disease Severe congenital neutropenia Leukocyte adhesion deficiency | — | GATA2 deficiency | GATA2 deficiency Severe congenital neutropenia (ELANE, HAX1, other) Shwachman-Diamond syndrome X-linked neutropenia due to gain of function mutations in WAS SMARCAD2 | — | — |
| 6 | Defects in intrinsic and innate immunity | IL-12 and interferon γ pathway defects | WHIM syndrome | Epidermodysplasia verruciformis WHIM syndrome | — | — | — |
| 7 | Autoinflammatory disorders | Familial Mediterranean fever Aicardi-Goutieres syndrome | — | — | — | — | — |
| 8 | Complement deficiencies | Hereditary angioedema | — | — | — | — | — |
| 9 | Bone marrow failure | Fanconi anemia Dyskeratosis congenita | Dyskeratosis congenita | — | Fanconi anemia Dyskeratosis congenita Coats plus syndrome MIRAGE (SAMD9) Ataxia pancytopenia syndrome (SAMD9L) | — | Fanconi anemia (breast, skin, head and neck, other) |
| 10 | Phenocopies of IEI | Somatic mutations leading to ALPS RAS- associated autoimmune leukopro- liferative disease | — | — | — | — | — |
CHARGE, coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies; HLH, hemophagocytic lymphohistiocytosis; IPEX, immune dysregulation, polyendocrinopathy, enteropathy, X-linked; MIRAGE, myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy; PNP, purine nucleoside phosphorylase; RAS, rat sarcoma; SCID, severe combined immunodeficiency; WHIM, warts, hypogammaglobulinemia, infections, and myelokathexis.