磷脂酰肌醇3激酶δ过度活化综合征1型与2型临床特征差异的研究进展

Advances in phenotyping activated phosphoinositide 3-kinase-delta syndrome type 1 and type 2

磷脂酰肌醇3激酶δ过度活化综合征(activated phosphoinositide 3-kinase-delta syndrome,APDS)是一种罕见的常染色体显性遗传的原发性免疫缺陷病。根据基因突变类型的不同分为APDS1型和APDS2型。APDS1患者较易发生支气管扩张、鼻窦炎、肝脾肿大、哮喘、自身免疫性或自身炎症性疾病,更频繁感染肺炎链球菌、流感嗜血杆菌。APDS2患者较易发生肺炎、眼部感染、淋巴结病、恶性肿瘤和神经/生长迟缓。免疫学特征中APDS1的T细胞计数显著降低,APDS2更易出现IgM水平升高。雷帕霉素治疗对APDS的两种类型都有益处,而Leniolisib在APDS1患者中的耐受性更好。该文通过对APDS1型和APDS2型临床表现、免疫学特征与治疗方面进行综述,以提高临床医生对APDS的认识。

Activated phosphoinositide 3-kinase-delta syndrome(APDS)is a rare autosomal dominant primary immunodeficiency disease.According to mutation types,APDS is divided into two types,APDS1 and APDS2.APDS1 patients have more susceptibility to develop bronchiectasis,sinusitis,hepatomegaly,splenomegaly,asthma,autoimmune or inflammatory diseases,and are more frequently infected with Streptococcus pneumoniae and Haemophilus influenzae,while APDS2 patients are more prone to get pneumonia,eye infection,and lymphadenopathy,malignancy,neurological and growth retardation.Among the immunological features,the T cell count of APDS1 is significantly low,and APDS2 is more obvious to appear elevated IgM levels.Rapamycin is beneficial for both types of APDS,and Leniolisib is better tolerated in patients with APDS1.This article reviews the differences in pathogenesis,clinical manifestations,immunological characteristics,and treatment between APDS1 and APDS2 to improve the understanding by clinicians.