A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection

Amorphic mutations in the recombination activating genes RAG1 and RAG2 have been reported to cause T(–)B(–) SCID, whereas hypomorphic mutations led to the expansion of a few autoimmune T cell clones responsible for the Omenn syndrome phenotype. We report here a novel clinical and immunological pheno...

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Main Authors: de Villartay, Jean-Pierre, Lim, Annick, Al-Mousa, Hamoud, Dupont, Sophie, Déchanet-Merville, Julie, Coumau-Gatbois, Edith, Gougeon, Marie-Lise, Lemainque, Arnaud, Eidenschenk, Céline, Jouanguy, Emmanuelle, Abel, Laurent, Casanova, Jean-Laurent, Fischer, Alain, Le Deist, Françoise
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Clinical Investigation 2005
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1265866/
https://ncbi.nlm.nih.gov/pubmed/16276422
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI25178
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