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Article

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

Pediatric rheumatology online journal - 29 Jan 2024

Zhao Peiwei, Huang Juan, Fu Huicong, Xu Jiali, Li Tianhong, Zhang Xiankai, Meng Qingjie, Zhang Lei, Tan Li, Zhang Wen, Chen Hebin, Lu Xiaoxia, Ding Yan, He Xuelian

Abstract excerpt

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 recurrent respiratory infections and lymphoproliferation, increased levels of serum immunoglobulin (Ig) M, Epstein-Barr virus...

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Identifiers

PMID: 38287413
DOI: 10.1186/s12969-024-00955-7
PMCID: PMC10823743

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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