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Article

Spectrum of Phenotypes Associated with Mutations in LRBA.

Journal of clinical immunology - 1 Jan 2016

Alkhairy Omar K, Abolhassani Hassan, Rezaei Nima, Fang Mingyan, Andersen Kasper Krogh, Chavoshzadeh Zahra, Mohammadzadeh Iraj, El-Rajab Mariam A, Massaad Michel, Chou Janet, Aghamohammadi Asghar, Geha Raif S, Hammarström Lennart

Abstract excerpt

To date, several germline mutations have been identified in the LRBA gene in patients suffering from a variety of clinical symptoms. These mutations abolish the expression of the LRBA protein, leading to autoimmunity, chronic diarrhea, B-cell deficiency, hypogammaglobulinemia, functional T-cell defects and aberrant autophagy. We review the clinical and laboratory features of patients with LRBA mutations and...

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Source

Identifiers

PMID: 26707784
DOI: 10.1007/s10875-015-0224-7

Genes

LRBA

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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