Article
A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.
The Journal of clinical investigation - 1 Jan 2006
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
Abstract excerpt
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 of T-B-NK+ SCID patients is sensitive to ionizing radiation, and the majority of these patients have mutations in...
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