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

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

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...

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Bibliographic Details
Main Authors: Peiwei Zhao, Juan Huang, Huicong Fu, Jiali Xu, Tianhong Li, Xiankai Zhang, Qingjie Meng, Lei Zhang, Li Tan, Wen Zhang, Hebin Chen, Xiaoxia Lu, Yan Ding, Xuelian He
Format: Article
Language:English
Published: BMC 2024-01-01
Series:Pediatric Rheumatology Online Journal
Subjects:
Activated phosphoinositide 3-kinase δ syndrome
PIK3CD
Immunodeficiency
Phenotype
ANCA-associated vasculitis
Online Access:https://doi.org/10.1186/s12969-024-00955-7

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