目的　分析X连锁凋亡抑制因子（XIAP）缺陷的诊断和治疗。方法　回顾分析1例XIAP缺陷患儿的临床资料， 并进行文献复习。结果　男性患儿， 5岁5个月起病，以反复发热、皮疹伴淋巴结、肝、脾肿大及炎症性肠病为主要表现。13 岁经基因检测确诊为XIAP缺陷。患儿3号外显子XIAP基因移码突变888_892del，导致氨基酸改变p.K299Lfs*8。检索文献， 未发现相同基因位点报道。结论　XIAP缺陷属于免疫失调性原发性免疫缺陷病，临床缺乏特异性，及时进行基因检查有 临床意义。

Objective　To analyze the diagnosis and treatment of X-linked inhibitor of apoptosis (XIAP) deficiency. Methods　The clinical data of XIAP deficiency in a child were retrospectively analyzed and related literature was reviewed. Results　A boy had the onset of the disease at the age of 5 years and 5 months. His main manifestations were recurrent fever, rash with lymphadenomegaly and hepatosplenomegaly, and inflammatory bowel disease. The child was diagnosed with XIAP deficiency by genetic testing at age 13 years. Frameshift mutation of 888_892del was found in exon 3 of XIAP gene, leading to the amino acid change of p.k299lfs*8. No similar gene locus reports were found by searching the literature. Conclusions　XIAP deficiency is an immunosuppressive primary immunodeficiency disease with no clinical specificity. Timely genetic examination is of clinical significance.