Article
The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries.
Frontiers in immunology - 1 Jan 2020
Sharapova Svetlana O, Skomska-Pawliszak Małgorzata, Rodina Yulia A, Wolska-Kuśnierz Beata, Dabrowska-Leonik Nel, Mikołuć Bozena, Pashchenko Olga E, Pasic Srdjan, Freiberger Tomáš, Milota Tomáš, Formánková Renata, Szaflarska Anna, Siedlar Maciej, Avčin Tadej, Markelj Gašper, Ciznar Peter, Kalwak Krzysztof, Kołtan Sylwia, Jackowska Teresa, Drabko Katarzyna, Gagro Alenka, Pac Małgorzata, Naumova Elissaveta, Kandilarova Snezhina, Babol-Pokora Katarzyna, Varabyou Dzmitry S, Barendregt Barbara H, Raykina Elena V, Varlamova Tatiana V, Pavlova Anna V, Grombirikova Hana, Debeljak Maruša, Mersiyanova Irina V, Bondarenko Anastasiia V, Chernyshova Liudmyla I, Kostyuchenko Larysa V, Guseva Marina N, Rascon Jelena, Muleviciene Audrone, Preiksaitiene Egle, Geier Christoph B, Leiss-Piller Alexander, Yamazaki Yasuhiro, Kawai Tomoki, Walter Jolan E, Kondratenko Irina V, Šedivá Anna, van der Burg Mirjam, Kuzmenko Natalia B, Notarangelo Luigi D, Bernatowska Ewa, Aleinikova Olga V
Abstract excerpt
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 even milder presentation with antibody deficiency. Objective: We aim to estimate the incidence, clinical...
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