B Cell Abnormalities and Autoantibody Production in Patients with Partial RAG Deficiency

Overview

Journal Front Immunol

Specialty Allergy & Immunology

Date 2023 Jul 21

PMID 37475856

Authors

Qing Min

Krisztian Csomos

Yaxuan Li

Lulu Dong

Ziying Hu

Xin Meng

Meiping Yu

Jolan E Walter

Ji-Yang Wang

Affiliations

Soon will be listed here.

Abstract

Mutations in the recombination activating gene 1 () and 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 peripherally during T and B cell development. However, the relative contributions of these processes to immune dysregulation remain unclear. In this review, we specifically focus on the recently described tolerance break and B cell abnormalities, as well as consequent molecular and cellular mechanisms of autoantibody production in patients with pRD.

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