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

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...

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Bibliographic Details
Main Authors: Couëdel, Chrystelle, Roman, Christopher, Jones, Alison, Vezzoni, Paolo, Villa, Anna, Cortes, Patricia
Format: Artigo
Language:Inglês
Published: American Society for Clinical Investigation 2010
Subjects:
Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2846059/
https://ncbi.nlm.nih.gov/pubmed/20234091
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI41305
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