25
Table 7C. Examples of IEIs Associated With Increased
Cancer Risk
IEI Type of cancer and risk
DNA repair defects Ataxia-telangiectasia (AT): leukemia (70–500-fold)
and lymphoma (200–750-fold)
Bloom syndrome: Intestinal cancer, leukemia, and
lymphoma (150–300–fold)
Common variable
immunodeficiency
Mucosa-associated lymphoid tissue lymphoma
Non-Hodgkin lymphoma (30–400-fold)
Gastric cancer (10-fold)
Defects in GATA2, CXCR4,
STK4
HPV-, EBV-associated cancers
Chronic myeloid leukemia
Acute myeloid leukemia
Myelodysplastic syndrome
Melanoma (GATA2)
Epidermodysplasia verruciformis Nonmelanoma skin cancers
Wiskott-Aldrich Syndrome Lymphoma
Combined immune deficiencies:
IL-10R deficiency; AD-HIES
B-cell lymphoma
FHLH (PRF1) Lymphoma
NK cell deficiency EBV and hematologic malignancies
X-Linked hyper IgM syndrome Pancreatic and liver cancers
Table 7B. Examples of IEI Associated With Autoimmune
Cytopenias
IEI
Associated
gene Prevalence of autoimmune cytopenias
DiGeorge Syndrome del22q11 4%–8% prevalence
ITP > AIHA
Single lineage cytopenias > multilineage
cytopenias
RAS-associated autoimmune
leukoproliferative disorder
(RALD)
KRAS,
NRAS
(somatic
mutations)
94% prevalence
Multilineage cytopenias > single lineage
cytopenias
(cont'd)
