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

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Burg, Mirjam ; Zdzienicka, Malgorzata ; Dongen, Jacques ; Gent, Dik ; Veelen, Lieneke ; Verkaik, Nicole ; Wiegant, Wouter ; Hartwig, Nico ; Barendregt, Barbara ; Brugmans, Linda ; Raams, Anja ; Jaspers, Nicolaas (2006)
  • Publisher: American Society for Clinical Investigation
  • Related identifiers: doi: 10.1172/JCI26121, pmc: PMC1312018
  • Subject: Natural/*immunology | Reference Values | Research Article | Research Support | T-Lymphocytes/*immunology | DNA Ligases/*genetics | Mice | Non-U.S. Gov't | Mutation | Severe Combined Immunodeficiency/*genetics/*immunology | Animals | B-Lymphocytes/*immunology | Humans | Killer Cells | SCID
    mesheuropmc: fungi

textabstractV(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... View more
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