Activated phosphoinositide 3-kinase δ syndrome caused by PIK3CD mutations: expanding the phenotype

• Autori principali: Peiwei Zhao (Autore), Juan Huang (Autore), Huicong Fu (Autore), Jiali Xu (Autore), Tianhong Li (Autore), Xiankai Zhang (Autore), Qingjie Meng (Autore), Lei Zhang (Autore), Li Tan (Autore), Wen Zhang (Autore), Hebin Chen (Autore), Xiaoxia Lu (Autore), Yan Ding (Autore), Xuelian He (Autore)
• Natura: Libro
• Pubblicazione: BMC, 2024-01-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

Abstract Background Germline heterozygous gain-of-function (GOF) mutations in the PIK3CD gene lead to a rare primary immunodeficiency disease known as activated phosphoinositide 3-kinase (PI3K) δ syndrome type 1(APDS1). Affected patients present a spectrum of clinical manifestations, particularly re...