青少年X连锁凋亡抑制因子缺陷1例并文献复习

Adolescent X-linked inhibitor of apoptosis deficiency:a case report and literature review

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.