EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children

by Tomas Kalina, Marina Bakardjieva, Maartje Blom, Martin Perez-Andres, Barbara Barendregt, Veronika Kanderová, Carolien Bonroy, Carolien Bonroy, Jan Philippé, Jan Philippé, Elena Blanco, Ingrid Pico-Knijnenburg, Ingrid Pico-Knijnenburg, Jitse H. M. P. Paping, Beata Wolska-Kuśnierz, Malgorzata Pac, Jakub Tkazcyk, Filomeen Haerynck, Himmet Haluk Akar, Renata Formánková, Tomáš Freiberger, Tomáš Freiberger, Michael Svatoň, Anna Šedivá, Sonia Arriba-Méndez, Alberto Orfao, Jacques J. M. van Dongen, Mirjam van der Burg, Mirjam van der Burg
Published 2020-03-01

Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement

by Renata Formankova, Veronika Kanderova, Marketa Rackova, Michael Svaton, Tomas Brdicka, Petr Riha, Petra Keslova, Ester Mejstrikova, Marketa Zaliova, Tomas Freiberger, Tomas Freiberger, Tomas Freiberger, Hana Grombirikova, Hana Grombirikova, Zuzana Zemanova, Marcela Vlkova, Marcela Vlkova, Filip Fencl, Ivana Copova, Jiri Bronsky, Petr Jabandziev, Petr Jabandziev, Petr Jabandziev, Petr Sedlacek, Jana Soukalova, Jana Soukalova, Ondrej Zapletal, Jan Stary, Jan Trka, Tomas Kalina, Karolina Skvarova Kramarzova, Eva Hlavackova, Eva Hlavackova, Jiri Litzman, Jiri Litzman, Eva Fronkova
Published 2019-09-01

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

by 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 Freiberger, Tomáš Milota, Tomáš Milota, Renata Formánková, Renata Formánková, Anna Szaflarska, Maciej Siedlar, Maciej Siedlar, Tadej Avčin, Tadej Avčin, Gašper Markelj, Gašper Markelj, Peter Ciznar, Krzysztof Kalwak, Sylwia Kołtan, Sylwia Kołtan, Teresa Jackowska, Katarzyna Drabko, Alenka Gagro, 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, Hana Grombirikova, Maruša Debeljak, 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, Jolan E. Walter, Irina V. Kondratenko, Anna Šedivá, Anna Šedivá, Mirjam van der Burg, Mirjam van der Burg, Natalia B. Kuzmenko, Luigi D. Notarangelo, Ewa Bernatowska, Olga V. Aleinikova
Published 2020-06-01