Distinct clinical characteristics and outcome caused by a novel deletion mutation in XIAP/BIRC4 gene: a case report

Abstract

Abstract X-linked lymphoproliferative disease (XLP), as a disorder of the immune system and blood-forming cells, is closely related to the infection with the Epstein-Barr virus (EBV) in most cases. XLP was found almost exclusively in males and it was estimated that around two million of males in the world are affected by this disease. Although intensive research work has been conducted on revealing the symptoms, pathology and the relevant contributing factors of XLP, a review of the reported literature shows that the reports of the asymptomatic state associated XLP or full recovery after treatment are relatively rare. In this paper, a case of XLP-2 with a novel deletion mutation in China is reported and discussed. From the Sanger sequencing analysis, it is found that the XIAP deficiency was caused by the deletion mutation (c.993 (exon4) _c.997 (exon4) del AGACE) in the XIAP gene however this novel mutation had not been reported. The evidence found in this case report implies that EBV infection is still a key stimulant. Besides, it can be inferred from the analysis of the results that peculiar gene mutation may lead to better prognosis. *Corresponding author: Junyan Wang Email: jywang@lzu.edu.cn