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Article

Identification of two novel mutations in patients with X-linked primary immunodeficiencies.

Fetal and pediatric pathology - 1 Apr 2015

Yu Li, Wang Xike, Wang Yuchuan, Wang Jian

Abstract excerpt

Primary immunodeficiency diseases (PID) are a heterogeneous group of inherited disorders with defects in one or more component of the immune system. In this study, we analyzed gene mutations in four X-linked PID pedigrees, which include one X- linked agammaglobulinemia (XLA) pedigree, one X-linked chronic granulomatous disease (XCGD) pedigree, and two X-linked Hyper IgM syndrome (XHIGM) pedigrees. Sequence...

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Source

Identifiers

PMID: 25353698
DOI: 10.3109/15513815.2014.969414

Genes

BTK
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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