Article
A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection.
The Journal of clinical investigation - 1 Nov 2005
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
Abstract excerpt
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 phenotype associated with recessive RAG1 hypomorphic mutations in 4 patients from 4 different families. The immunological...
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