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
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2005
Assuntos:
Research Article
Acesso em linha: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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