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Article

Hypomorphic mutation in the RAG2 gene affects dendritic cell distribution and migration.

Journal of leukocyte biology - 1 Dec 2013

Maina Virginia, Marrella Veronica, Mantero Stefano, Cassani Barbara, Fontana Elena, Anselmo Achille, Del Prete Annalisa, Sozzani Silvano, Vezzoni Paolo, Poliani Pietro Luigi, Villa Anna

Abstract excerpt

OS is a severe combined immunodeficiency characterized by erythrodermia and protracted diarrhea as a result of infiltration of oligoclonal-activated T cells, caused by hypomorphic mutations in RAGs. The RAG2(R229Q) mouse model fully recapitulates the clinical OS phenotype. We evaluated whether T and B cell defects, together with the abnormal lymphoid structure, could affect DC homeostasis and function. High...

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Source

Identifiers

PMID: 24052573
DOI: 10.1189/jlb.0713365

Genes

RAG2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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