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Article

Investigating concomitant RAG-2 and LRBA mutations in SCID and autoimmunity.

Clinical and experimental immunology - 6 Jan 2026

Spivak Ilia, Frizinsky Shirly, Mandola Amarilla, Lev Atar, Simon Amos J, Barel Ortal, Vishnevskia-Dai Vicktoria, Somech Raz, Somekh Ido

Abstract excerpt

Inborn errors of immunity (IEI) are a large heterogeneous group of diseases characterized by immunodeficiency, immune dysregulation, allergy, auto-inflammation, and predisposition to malignancies. Most are inherited as an autosomal recessive trait. We studied a patient with severe combined immunodeficiency (SCID) and immune dysregulation who harbored two distinct biallelic IEI-associated genetic mutations....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39361308
DOI: 10.1093/cei/uxae083
PMCID: PMC13032038

Genes

LRBA
CTLA4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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