In family 3, the c.1412G>C p.(Arg471Pro) in NOD2 was found in the heterozygous state in all five family members (Figure 1), of which only one had a classical triad of BS including uveitis, and two had uveitis, one of whom had documented skin rush, while two exhibited camptodactyly only. The gene discussed is NOD2; the disease is Bloom syndrome.