First, two individuals from this family presented with BS, but genetic testing did not identify gene mutations that were associated with BS susceptibility, e.g., histocompatibility leukocyte antigen (HLA)-B*51, IL23R-IL12RB2 and IL10, Toll-like receptor (TLR) 2 and TLR4, and TNFAIP3 gene polymorphisms (22). The gene discussed is IL12RB2; the disease is Bloom syndrome.