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Article

B cell abnormalities and autoantibody production in patients with partial RAG deficiency.

Frontiers in immunology - 1 Jan 2023

Min Qing, Csomos Krisztian, Li Yaxuan, Dong Lulu, Hu Ziying, Meng Xin, Yu Meiping, Walter Jolan E, Wang Ji-Yang

Abstract excerpt

Mutations in the recombination activating gene 1 (RAG1) and RAG2 in humans are associated with a broad spectrum of clinical phenotypes, from severe combined immunodeficiency to immune dysregulation. Partial (hypomorphic) RAG deficiency (pRD) in particular, frequently leads to hyperinflammation and autoimmunity, with several underlying intrinsic and extrinsic mechanisms causing a break in tolerance centrally and...

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Identifiers

PMID: 37475856
DOI: 10.3389/fimmu.2023.1155380
PMCID: PMC10354446

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