The non-homologous end joining (NHEJ) pathway is involved in the repair of the DNA double-strand breaks. Defects in NHEJ factors result in IR sensitivity, and in defects in V(D)J recombination leading to immunodeficiency. DNA Ligase IV is an essential component that performs the final 'end processing' step of NHEJ. This article is protected by copyright. All rights reserved.

Cifaldi, C., Angelino, G., Chiriaco, M., Di Cesare, S., Claps, A., Serafinelli, J., et al. (2016). Late-onset combined immune-deficiency due to LIGIV mutations in a 12 years old patient. PEDIATRIC ALLERGY AND IMMUNOLOGY [10.1111/pai.12684].

Late-onset combined immune-deficiency due to LIGIV mutations in a 12 years old patient

CHIRIACO, MARIA;DI CESARE, SILVIA;ROSSI, PAOLO;DI MATTEO, GIGLIOLA;CANCRINI, CATERINA;FINOCCHI, ANDREA
2016-11-28

Abstract

The non-homologous end joining (NHEJ) pathway is involved in the repair of the DNA double-strand breaks. Defects in NHEJ factors result in IR sensitivity, and in defects in V(D)J recombination leading to immunodeficiency. DNA Ligase IV is an essential component that performs the final 'end processing' step of NHEJ. This article is protected by copyright. All rights reserved.
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/38 - Pediatria Generale e Specialistica
English
Atypical DNA ligase IV deficiency; Immunodeficiency; Normal development; Radiosensitivity
Cifaldi, C., Angelino, G., Chiriaco, M., Di Cesare, S., Claps, A., Serafinelli, J., et al. (2016). Late-onset combined immune-deficiency due to LIGIV mutations in a 12 years old patient. PEDIATRIC ALLERGY AND IMMUNOLOGY [10.1111/pai.12684].
Cifaldi, C; Angelino, G; Chiriaco, M; DI CESARE, S; Claps, A; Serafinelli, J; Rossi, P; Antoccia, A; DI MATTEO, G; Cancrini, C; De Villartay, J; Finocchi, A
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2108/171273
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