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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Autors principals: 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: Article
Idioma:English
Publicat: American Society for Clinical Investigation 2006
Matèries:
Research Article
Accés en línia: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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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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