A new type of radiosensitive T(–)B(–)NK(+) severe combined immunodeficiency caused by a LIG4 mutation

V(D)J recombination of Ig and TCR loci is a stepwise process during which site-specific DNA double-strand breaks (DSBs) are made by RAG1/RAG2, followed by DSB repair by nonhomologous end joining. Defects in V(D)J recombination result in SCID characterized by absence of mature B and T cells. A subset...

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Détails bibliographiques
Auteurs principaux: van der Burg, Mirjam, van Veelen, Lieneke R., Verkaik, Nicole S., Wiegant, Wouter W., Hartwig, Nico G., Barendregt, Barbara H., Brugmans, Linda, Raams, Anja, Jaspers, Nicolaas G.J., Zdzienicka, Malgorzata Z., van Dongen, Jacques J.M., van Gent, Dik C.
Format: Artigo
Langue:Inglês
Publié: American Society for Clinical Investigation 2006
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1312018/
https://ncbi.nlm.nih.gov/pubmed/16357942
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI26121
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