Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and NBN Founder Variant c.657_661del5

Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and NBN Founder Variant c.657_661del5

Nijmegen breakage syndrome (NBS) is a DNA repair disorder characterized by combined immunodeficiency and a high predisposition to lymphoid malignancies. The majority of NBS patients are identified with a homozygous five base pair deletion in the Nibrin (NBN) gene (c.657_661del5, p.K219fsX19) with a...

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Main Authors: Svetlana O. Sharapova, Olga E. Pashchenko, Anastasiia V. Bondarenko, Svetlana S. Vakhlyarskaya, Tatjana Prokofjeva, Alina S. Fedorova, Ihor Savchak, Yuliya Mareika, Timur T. Valiev, Alexander Popa, Irina A. Tuzankina, Elena V. Vlasova, Inga S. Sakovich, Ekaterina A. Polyakova, Natalia V. Rumiantseva, Irina V. Naumchik, Svetlana A. Kulyova, Svetlana N. Aleshkevich, Elena I. Golovataya, Nina V. Minakovskaya, Mikhail V. Belevtsev, Elena A. Latysheva, Tatiana V. Latysheva, Alexander G. Beznoshchenko, Hayane Akopyan, Halyna Makukh, Olena Kozlova, Dzmitry S. Varabyou, Mark Ballow, Mei-Sing Ong, Jolan E. Walter, Irina V. Kondratenko, Larysa V. Kostyuchenko, Olga V. Aleinikova
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-01-01
Series:Frontiers in Immunology
Subjects:
Nijmegen breakage syndrome (NBS)
founder variants
incidence in East Slavs
lymphomas, risk of malignancies
geographical location
social adaptation
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2020.602482/full

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https://www.frontiersin.org/articles/10.3389/fimmu.2020.602482/full

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