The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries

The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries

Background: Variants in recombination-activating genes (RAG) are common genetic causes of autosomal recessive forms of combined immunodeficiencies (CID) ranging from severe combined immunodeficiency (SCID), Omenn syndrome (OS), leaky SCID, and CID with granulomas and/or autoimmunity (CID-G/AI), and...

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Main Authors: Svetlana O. Sharapova, Małgorzata Skomska-Pawliszak, Yulia A. Rodina, Beata Wolska-Kuśnierz, Nel Dabrowska-Leonik, Bozena Mikołuć, Olga E. Pashchenko, Srdjan Pasic, Tomáš Freiberger, Tomáš Milota, Renata Formánková, Anna Szaflarska, Maciej Siedlar, Tadej Avčin, Gašper Markelj, Peter Ciznar, Krzysztof Kalwak, Sylwia Kołtan, Teresa Jackowska, Katarzyna Drabko, Alenka Gagro, Małgorzata Pac, Elissaveta Naumova, Snezhina Kandilarova, Katarzyna Babol-Pokora, Dzmitry S. Varabyou, Barbara H. Barendregt, Elena V. Raykina, Tatiana V. Varlamova, Anna V. Pavlova, Hana Grombirikova, Maruša Debeljak, Irina V. Mersiyanova, Anastasiia V. Bondarenko, Liudmyla I. Chernyshova, Larysa V. Kostyuchenko, Marina N. Guseva, Jelena Rascon, Audrone Muleviciene, Egle Preiksaitiene, Christoph B. Geier, Alexander Leiss-Piller, Yasuhiro Yamazaki, Tomoki Kawai, Jolan E. Walter, Irina V. Kondratenko, Anna Šedivá, Mirjam van der Burg, Natalia B. Kuzmenko, Luigi D. Notarangelo, Ewa Bernatowska, Olga V. Aleinikova
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-06-01
Series:Frontiers in Immunology
Subjects:
RAG1
RAG2
primary immunodeficiency
geographic distribution
incidence
Slavic children
Online Access:https://www.frontiersin.org/article/10.3389/fimmu.2020.00900/full

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https://www.frontiersin.org/article/10.3389/fimmu.2020.00900/full

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