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Article

Analysis of mutations from SCID and Omenn syndrome patients reveals the central role of the Rag2 PHD domain in regulating V(D)J recombination.

The Journal of clinical investigation - 1 Apr 2010

Couëdel Chrystelle, Roman Christopher, Jones Alison, Vezzoni Paolo, Villa Anna, Cortes Patricia

Abstract excerpt

Rag2 plays an essential role in the generation of antigen receptors. Mutations that impair Rag2 function can lead to severe combined immunodeficiency (SCID), a condition characterized by complete absence of T and B cells, or Omenn syndrome (OS), a form of SCID characterized by the virtual absence of B cells and the presence of oligoclonal autoreactive T cells. Here, we present a comparative study of a panel of...

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Identifiers

PMID: 20234091
DOI: 10.1172/JCI41305
PMCID: PMC2846059

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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