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Article

LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency.

The Journal of allergy and clinical immunology - 1 Aug 2012

Alangari Abdullah, Alsultan Abdulrahman, Adly Nouran, Massaad Michel J, Kiani Iram Shakir, Aljebreen Abdulrahman, Raddaoui Emad, Almomen Abdul-Kareem, Al-Muhsen Saleh, Geha Raif S, Alkuraya Fowzan S

Abstract excerpt

BACKGROUND: Clinical immunology has traditionally relied on accurate phenotyping of the patient's immune dysfunction for the identification of a candidate gene or genes for sequencing and molecular confirmation. Although this is also true for other branches of medicine, the marked variability in...

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Source

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Identifiers

PMID: 22721650
DOI: 10.1016/j.jaci.2012.05.043
PMCID: PMC3582381

Genes

LRBA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22721650-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency.PMID 22721650Read ↗

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The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency.Semantic proximity Read ↗

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