Activated PI3Kδ syndrome 1 mimicking systemic lupus erythematosus and secondary Sjögren's syndrome-like phenotype without recurrent infections: A case report

Activated phosphoinositide 3-kinase-δ syndrome 1 (APDS1) is a combined immunodeficiency caused by a heterozygous gain-of-function mutation in PIK3CD, encoding the p110δ catalytic subunit of phosphoinositide 3-kinase δ (PI3Kδ). APDS1 is characterized by recurrent sinopulmonary infections, leading to...

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Bibliographic Details

Published in:	Frontiers in Pediatrics
Main Authors:	Jing Yin, Jijun Ma, Jingyue Xia, Yang Cao, Chongwei Li
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2022-12-01
Subjects:	activated phosphoinositide 3-kinase-δ syndrome PIK3CD p110δ autoimmune systemic lupus erythematosus Sjögren's syndrome
Online Access:	https://www.frontiersin.org/articles/10.3389/fped.2022.1077324/full