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LRBA, a BEACH protein mutated in human immune deficiency, is widely expressed in epithelia, exocrine and endocrine glands, and neurons.

Scientific reports - 9 May 2024

Roussa Eleni, Juda Pavel, Laue Michael, Mai-Kolerus Oliver, Meyerhof Wolfgang, Sjöblom Markus, Nikolovska Katerina, Seidler Ursula, Kilimann Manfred W

Abstract excerpt

Mutations in LRBA, a BEACH domain protein, cause severe immune deficiency in humans. LRBA is expressed in many tissues and organs according to biochemical analysis, but little is known about its cellular and subcellular localization, and its deficiency phenotype outside the immune system. By LacZ histochemistry of Lrba gene-trap mice, we performed a comprehensive survey of LRBA expression in numerous tissues,...

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Identifiers

PMID: 38724551
DOI: 10.1038/s41598-024-60257-6
PMCID: PMC11082223

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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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