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Article

Identification of IL2RG and CYBB mutations in two Chinese primary immunodeficiency patients by whole-exome sequencing.

Immunological investigations - 1 Apr 2018

Xu Shanshan, Li Qiyuan, Wu Jinzhun, Chen Guobing, Zhu Bizhen, Gu Weiyue

Abstract excerpt

BACKGROUND: Primary immunodeficiency diseases are a group of genetic disorders that lead to increased propensity to a variety of infections, sometimes with fatal outcomes. METHOD: In this study, whole-exome sequencing (WES) was used to identify mutations in two patients suspected of having primary immunodeficiency. Sanger sequencing was used to confirm the results in the patients and their family. RESULT: One...

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Source

Identifiers

PMID: 29388853
DOI: 10.1080/08820139.2017.1371186

Genes

CYBB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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