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V(D)J Recombination Deficiencies

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V(D)J Recombination

Part of the book series: Advances in Experimental Medicine and Biology ((volume 650))

Abstract

V(D)J recombination not only comprises the molecular mechanism that insures diversity of the immune system but also constitutes a critical checkpoint in the developmental program of B- and T-lymphocytes. The analysis of human patients with Severe Combined Immune Deficiency (SCID) has contributed to the understanding of the biochemistry of the V(D)J recombination reaction. The molecular study V(D)J recombination settings in humans, mice and in cellular mutants has allowed to unravel the process of Non Homologous End Joining (NHEJ), one of the key pathway that insure proper repair of DNA double strand breaks (dsb), whether they occur during V(D)J recombination or secondary to other DNA injuries. Two NHEJ factors, Artemis and Cernunnos, were indeed discovered through the study of human V(D)J recombination defective human SCID patients.

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Authors and Affiliations

  1. U768, Unité Développement Normal et Pathologique du Système Immunitaire, INSERM, Paris, France

    Jean-Pierre de Villartay

  2. Faculté de Médecine René Descartes, Université Paris-Descartes, Paris, France

    Jean-Pierre de Villartay

  3. Service d’Immunologie et d’Hématologie Pédiatrique, AP-HP, Hôpital Necker Enfants Malades, Paris, France

    Jean-Pierre de Villartay

  4. INSERM U768, Hôpital Necker Enfants Malades, 149 rue de Sèvres, 75015, Paris, France

    Jean-Pierre de Villartay

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  1. Centre d’Immunologie de Marseille-Luminy, Université d’Aix Marseille, Marseille, France

    Pierre Ferrier MD, PhD

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de Villartay, JP. (2009). V(D)J Recombination Deficiencies. In: Ferrier, P. (eds) V(D)J Recombination. Advances in Experimental Medicine and Biology, vol 650. Springer, New York, NY. https://doi.org/10.1007/978-1-4419-0296-2_4

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