Familial segregation analysis by Sanger sequencing of the variants confirmed that the proband was homozygous for the IKBKB p.R77Q variant whereas both parents were heterozygous carriers, one sibling was homozygous for the reference allele, and the second sibling whose history included repeated infections and low weight gain was also homozygous for the p.R77Q variant. The gene discussed is IKBKB; the disease is infection.