关键词: XIAP缺陷综合征；　噬血细胞综合征；　炎症性肠病；　基因突变

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 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.

Key words: 　X-linked inhibitor of apoplosis deficiency syndrome;　hemophagocytic syndrome;　inflammatory bowel disease;　genetic mutation