PAX1 and combined immunodeficiency: A large consanguineous kindred was recently reported where patients were affected with OTFCS2 as well as severe combined immunodeficiency [13], caused by a homozygous nonsense mutation in PAX1. Interestingly, six family members who were heterozygous for the segregating variant were reported to have preauricular pits, although no other phenotypic information was provided.