XIAP^G466X and CD40L^G219R mutations. (A) Pedigree of the family presenting the X-linked condition that cosegregates with XIAP^G466X and CD40L^G219R mutations. All numbered individuals have been sequenced with the exception of patients I-3, I-5, and III-4 (*). Black boxes represent affected hemizygous carriers of both XIAP and CD40LG mutations. Circles with a black dot represent heterozygous carrier of both XIAP and CD40LG mutations. The gray box represents asymptomatic hemizygous carriers of the XIAP mutation. (B and C) Schematic of XIAP (B) and CD40L (C). The XIAP-encoding domains from exons 1 to 6 and CD40L-encoding domains from exons 1 to 5 are shown. Localization of the CD40L^G219R mutation and the XIAP^G466X mutation is shown by a black arrow. The nucleotide position of each mutation is indicated in italics. BIR indicates baculovirus inhibitor of apoptosis repeats; UBA, ubiquitin-binding domain; IC, intracellular; TM, transmembrane; and EC, extracellular.