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Article

Adult-Onset LRBA Deficiency Presenting with Rheumatoid Arthritis-Like Manifestations: A Case Report.

Journal of clinical immunology - 6 Jul 2026

Ninagawa Keita, Kudo Yuki, Kono Michihito, Hisada Ryo, Atsumi Tatsuya

Abstract excerpt

Lipopolysaccharide-responsive beige-like anchor protein (LRBA) deficiency is a primary inborn error of immunity characterized by immune dysregulation and frequently associated with autoimmune connective tissue manifestations. We describe an adult woman diagnosed with rheumatoid arthritis who was subsequently found to have LRBA deficiency based on genetic testing and investigated inflammatory proteins potentially...

Topics

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Adaptor Proteins, Signal Transducing
Arthritis, Rheumatoid
CD4 gene
CTLA4 gene
Immunologic Deficiency Syndromes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42406167
DOI: 10.1007/s10875-026-02048-4
PMCID: PMC13337776

Genes

LRBA
CD4
CTLA4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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