【摘要】 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888₈92del,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。更多还原

【Abstract】 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 888₈92del 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更多还原