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Article

E1021K Homozygous Mutation in PIK3CD Leads to Activated PI3K-Delta Syndrome 1.

Journal of clinical immunology - 1 Feb 2020

Wang Yanping, Chen Xuemei, Yang Qiuyun, Tang Wenjing, Jia Yanjun, Zhou Lina, An Yunfei, Zhang Zhiyong, Tang Xuemei, Zhao Xiaodong

Abstract excerpt

PURPOSE: Activated PI3Kδ syndrome 1 is a primary immunodeficiency disease, usually caused by heterozygous mutations in PIK3CD. We aimed to identify the cause of homozygous mutation at c.G3061A (p.E1021K) in a patient and the effect of allele dose in this mutation. METHODS: Genomic DNA from the parent-child trio was analyzed by next-generation sequencing. We performed phenotypic analyses in the patient and in...

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Share to Chromosomes, Human, Pair 1
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 31953711
DOI: 10.1007/s10875-020-00749-y

Provenance

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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