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Article

Uniparental Disomy of Chromosome 4: A Case of Whole Chromosome UPD Presenting with LRBA Deficiency.

Journal of clinical immunology - 18 Sept 2024

Ak Bilgesu, Parıltay Erhan, Gümüşburun Reyhan, Dalgıç Ceyda Tunakan, Aykut Ayça, Durmaz Asude, Akın Haluk, Ardeniz Ömür, Lo Bernice

Abstract excerpt

PURPOSE: Lipopolysaccharide-responsive beige-like anchor protein (LRBA) encodes a widely expressed cytosolic protein that participates in polarized vesicle trafficking. Homozygous loss-of-function LRBA mutations can lead to immune deficiency due to the lack of immune regulation, classified as a part of Tregopathies. We present a case of a 49-year-old female, with polyarthralgia in metacarpophalangeal and proximal...

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Identifiers

PMID: 39289195
DOI: 10.1007/s10875-024-01803-9

Genes

LRBA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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