PI3Kδ过度活化综合征诊疗进展

Advances on the diagnosis and treatment of activated phosphoinositide 3-kinase delta syndrome

PI3Kδ过度活化综合征(APDS)是一种罕见的常染色体显性遗传原发性免疫缺陷病,全球报道该病例已超300例。c.3061 G>A(p.E1021K)与c.1425+1 G>(A,C,T)(p.434-475del)为目前热点突变位点。尽管早期行基因二代测序筛查可缩短确诊时间,但由于APDS发病率低及高度异质性的临床特点,临床对其识别率不高,极易被漏诊、误诊,且目前尚无统一的诊疗方法。故该文就近年来有关APDS的发病机制、诊断和治疗进展进行综述。

Activated phosphoinositide 3-kinase delta syndrome(APDS) is a rare autosomal dominant primary immunodeficiency disease(PID). To date, more than 300 cases have been reported globally. The c.3061 G >A(p. E1021 K) and c.1425+1 G >(A, C, T)(p.434-475 del) mutations are a research focus currently. Early screening with next-generation sequencing(NGS) can shorten the time to confirmed diagnosis of APDS. However, owing to the low incidence of APDS and the high heterogeneity of clinical features, the recognition of the disease is insufficient;misdiagnosis and missed diagnosis of the disease are commonly seen;and there is no standard diagnosis and treatment framework at present. This paper reviews the advances on pathogenesis, diagnosis and treatment of APDS in recent years.