Missense mutation in the IL-12Rβ1 chain–encoding gene identified in the patient and his pedigree.

(A) A missense mutation identified in the patient: an amino acid substitution from arginine (CGG) to tryptophan (TGG) at position 213 (designated R213W). (B) Study of family members of the patient. Family pedigree and electropherograms for nucleotide 701 position (amino acid 213 position) in the IL-12Rβ1 chain–encoding gene of the index patient, his parents, and sister are shown. Note that the patient was homozygous for 701T (T/T), whereas both his parents were heterozygous (C/T) and his sister did not carry R213W (C/C).