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

作者： Cristina Cifaldi , Giulia Angelino , Maria Chiriaco , Silvia Di Cesare , Alessia Claps

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

参考文章(10)

Tawfeg I. Ben-Omran, Karen Cerosaletti, Patrick Concannon, Sheila Weitzman, Marjan M. Nezarati, A patient with mutations in DNA Ligase IV: Clinical features and overlap with Nijmegen breakage syndrome American Journal of Medical Genetics Part A. ,vol. 137A, pp. 283- 287 ,(2005) , 10.1002/AJMG.A.30869

Dietke Buck, Despina Moshous, Régina de Chasseval, Yunmei Ma, Françoise le Deist, Marina Cavazzana‐Calvo, Alain Fischer, Jean‐Laurent Casanova, Michael R Lieber, Jean‐Pierre de Villartay, None, Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV. European Journal of Immunology. ,vol. 36, pp. 224- 235 ,(2006) , 10.1002/EJI.200535401

S. A. Gatz, L. Ju, R. Gruber, E. Hoffmann, A. M. Carr, Z.-Q. Wang, C. Liu, P. A. Jeggo, Requirement for DNA Ligase IV during Embryonic Neuronal Development The Journal of Neuroscience. ,vol. 31, pp. 10088- 10100 ,(2011) , 10.1523/JNEUROSCI.1324-11.2011

Mark O'Driscoll, Karen M. Cerosaletti, Pierre-M Girard, Yan Dai, Markus Stumm, Boris Kysela, Betsy Hirsch, Andrew Gennery, Susan E. Palmer, Jörg Seidel, Richard A. Gatti, Raymonda Varon, Marjorie A. Oettinger, Heidemarie Neitzel, Penny A. Jeggo, Patrick Concannon, DNA Ligase IV Mutations Identified in Patients Exhibiting Developmental Delay and Immunodeficiency Molecular Cell. ,vol. 8, pp. 1175- 1185 ,(2001) , 10.1016/S1097-2765(01)00408-7

E. Riballo, S.E. Critchlow, S-H. Teo, A.J. Doherty, A. Priestley, B. Broughton, B. Kysela, H. Beamish, N. Plowman, C.F. Arlett, A.R. Lehmann, S.P. Jackson, P.A. Jeggo, Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient Current Biology. ,vol. 9, pp. 699- S2 ,(1999) , 10.1016/S0960-9822(99)80311-X

Jennie E. Murray, Louise S. Bicknell, Gökhan Yigit, Angela L. Duker, Margriet van Kogelenberg, Sara Haghayegh, Dagmar Wieczorek, Hülya Kayserili, Michael H. Albert, Carol A. Wise, January Brandon, Tjitske Kleefstra, Adilia Warris, Michiel van der Flier, J. Steven Bamforth, Kurston Doonanco, Lesley Adès, Alan Ma, Michael Field, Diana Johnson, Fiona Shackley, Helen Firth, C. Geoffrey Woods, Peter Nürnberg, Richard A. Gatti, Matthew Hurles, Michael B. Bober, Bernd Wollnik, Andrew P. Jackson, Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency Human Mutation. ,vol. 35, pp. 76- 85 ,(2014) , 10.1002/HUMU.22461

Enriqueta Riballo, Aidan J. Doherty, Yan Dai, Thomas Stiff, Marjorie A. Oettinger, Penny A. Jeggo, Boris Kysela, Cellular and Biochemical Impact of a Mutation in DNA Ligase IV Conferring Clinical Radiosensitivity Journal of Biological Chemistry. ,vol. 276, pp. 31124- 31132 ,(2001) , 10.1074/JBC.M103866200

Svetlana O. Sharapova, Elizabeth Yenhui Chang, Irina E. Guryanova, Inna V. Proleskovskaya, Alina S. Fedorova, Elena A. Rutskaya, Olga V. Aleinikova, Next generation sequencing revealed DNA ligase IV deficiency in a "developmentally normal" patient with massive brain Epstein-Barr virus-positive diffuse large B-cell lymphoma. Clinical Immunology. ,vol. 163, pp. 108- 110 ,(2016) , 10.1016/J.CLIM.2016.01.002

Kerstin Felgentreff, Sachin N. Baxi, Yu Nee Lee, Kerry Dobbs, Lauren A. Henderson, Krisztian Csomos, Erdyni N. Tsitsikov, Mary Armanios, Jolan E. Walter, Luigi D. Notarangelo, Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals Journal of Clinical Immunology. ,vol. 36, pp. 341- 353 ,(2016) , 10.1007/S10875-016-0266-5

10.

Thomas Altmann, Andrew R. Gennery, DNA ligase IV syndrome; a review Orphanet Journal of Rare Diseases. ,vol. 11, pp. 137- 137 ,(2016) , 10.1186/S13023-016-0520-1

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

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

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