Figure 1.

Germline mutations that underlie IEI and lymphoma. (A) Patient information and germline disease-causing or -associated genes are shown. IEI-causing or -associated genes are labeled in black. Cancer-causing or -associated genes are labeled in red. (B) A comparison of DLBCL onset ages between IEI and non-IEI patients. For the non-IEI cohort, HBsAg⁺ patients were excluded as these patients have previously been shown to have a younger age at diagnosis and distinct mutational patterns.⁴⁴ (C-D) Newly identified disease-causing or -associated mutations were validated by Sanger sequencing. Alt, alteration; c.h., compound heterozygous; EBV B-lym, EBV-associated B-cell lymphoma; het, heterozygous; hom, homozygous; LIG4, LIG4 syndrome; Ref, reference; T-lym, T-cell lymphoma.