X-linked Dysgammaglobulinemia Caused by Hypomorphic XIAP Mutation

摘要

To elucidate the pathogenic backgrounds of dysgammaglobulinemia in patients with XIAP gene mutation, we investigated the patients carrying Glu349del mutation who presented with dysgammaglobulinemia. Flow cytometric analysis showed that the frequencies of memory B cells and follicular helper T (Tfh) cells in patients with XIAP mutation were lower than those in control. And the patients with Glu349del mutation have significantly lower frequencies of memory B cells and of Tfh cells. In vitro immunoglobulin production assay demonstrated that the patients with Glu349del mutation showed reduced Ig production with stimuli. Patients carrying Glu349del mutation in XIAP gene may have the clinically and immunologically distinct phenotype from patients with other XIAP mutations.