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A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome

Rag enzymes are the main players in V(D)J recombination, the process responsible for rearrangement of TCR and Ig genes. Hypomorphic Rag mutations in humans, which maintain partial V(D)J activity, cause a peculiar SCID associated with autoimmune-like manifestations, Omenn syndrome (OS). Although a de...

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Autors principals: Marrella, Veronica, Poliani, Pietro Luigi, Casati, Anna, Rucci, Francesca, Frascoli, Laura, Gougeon, Marie-Lise, Lemercier, Brigitte, Bosticardo, Marita, Ravanini, Maria, Battaglia, Manuela, Roncarolo, Maria Grazia, Cavazzana-Calvo, Marina, Facchetti, Fabio, Notarangelo, Luigi D., Vezzoni, Paolo, Grassi, Fabio, Villa, Anna
Format: Artigo
Idioma:Inglês
Publicat: American Society for Clinical Investigation 2007
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1857243/
https://ncbi.nlm.nih.gov/pubmed/17476358
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI30928
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