B cell abnormalities and autoantibody production in patients with partial RAG deficiency.
Front Immunol
; 14: 1155380, 2023.
Article
de En
| MEDLINE
| ID: mdl-37475856
ABSTRACT
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 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.
Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Immunodéficience combinée grave
/
Protéines à homéodomaine
Limites:
Humans
Langue:
En
Journal:
Front Immunol
Année:
2023
Type de document:
Article
Pays d'affiliation:
Chine