Table 1.
Frequency of nine inherited diseases with primary immune deficiency and their cancer risk.
| Diseases | Disease frequency | Global cancer risk (fold increase) and/or prevalence (%) | Over-represented cancers | Comments |
|---|---|---|---|---|
| Selective IgA deficiency (5, 12–15) | 1/143–1/965 | ×1.31 | Gastric cancers (×1.64–5.4) Lymphoma × (1.68–2.6) |
Lung cancer decreased |
| CVID (4–6, 16, 17) | 1/10,000–100,000 | ×1.19–3 | Lymphoma (×8.4–18.6) Gastric carcinoma (×5–16.2) |
No virus-related cancersa Decrease frequency of these cancers usual in children and adults |
| X-linked agammaglobulinemia (10, 18–21) | 1/200,000 | Increased | Gastric carcinoma Intestinal carcinoma |
Chronic infections Helicobacter pylori |
| X-linked hyper-IgM syndrome (22–25) | 1/1,000,000 | Increased | Liver carcinoma Gallbladder carcinoma Pancreas carcinoma |
Frequent cholecystitis Hepatitis |
| Wiskott–Aldrich syndrome (26–29) | 1/10,000–10,000 | Increased | Lymphoma CNS lymphoma |
Virus-related cancers (EBV infections) |
| Cartilage-hair hypoplasia (30–33) | NAb | ×7 45% at 65 years | Lymphoma (×90) Skin cancer (×33) |
|
| WHIM syndrome (9, 34, 37) | 1/4,000,000 | 30% at 40 years | Lymphoma Genital and ENT squamous cell carcinoma |
Viral infections |
| Severe congenital neutropenia (38–40) | 1/100,000 | 31% | Acute myeloid leukemia (AML) and myelodysplastic syndrome | Bone marrow failure G-CSF treatment |
| Natural killer cell deficiency (41, 44) | NA | Increased | Acute myeloid leukemia, carcinoma of genital organs and skin cancer, and breast carcinoma | Myelodysplasia, HPV, and EBV infections, GATA2 interacts with GATA3c |
NA, not available; EBV, Epstein–Barr virus; HPV, human papilloma virus; CVID, common variable immune deficiency; ENT, ear nose and throat.
aEBV, HPV.
b1/1, 000–2,000 in Amish people in USA and 1/23,000 in Finland, very rare in other countries.
cGATA 3 interacts with GATA 2 which is involved in the growth control of breast cancer.