Somatic mosaicism due to monoallelic reversion of a mutation in T cells of an ADA-SCID patient and the effects of enzyme replacement therapy on the revertant phenotype

Patients with adenosine deaminase (ADA) deficiency exhibit spontaneous and partial clinical remission associated with somatic reversion of inherited mutations. We report a child with severe combined immunodeficiency (T-B-NK- SCID) due to ADA deficiency diagnosed at the age of 1 month, whose lymphocy...

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Main Authors: Moncada-Vélez, Marcela, Vélez-Ortega, Alejandra C., Orrego, Julio C., Santisteban, Inés, Jagadeesh, Jayashree, Olivares, Margarita, Olaya, Natalia, Hershfield, Michael S., Candotti, Fabio, Franco, Jose L.
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3188688/
https://ncbi.nlm.nih.gov/pubmed/21671975
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1365-3083.2011.02593.x
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