Mendelian Susceptibility to Mycobacterial Disease: The First Case of a Diagnosed Adult Patient in the Czech Republic

by Miroslav Prucha, Hana Grombirikova, Pavel Zdrahal, Marketa Bloomfield, Zuzana Parackova, Tomas Freiberger
Published 2020-01-01

Bacterial but Not Fungal Gut Microbiota Alterations Are Associated With Common Variable Immunodeficiency (CVID) Phenotype

by Kristýna Fiedorová, Kristýna Fiedorová, Kristýna Fiedorová, Matěj Radvanský, Juraj Bosák, Hana Grombiříková, Hana Grombiříková, Eva Němcová, Pavlína Králíčková, Michaela Černochová, Iva Kotásková, Iva Kotásková, Iva Kotásková, Matej Lexa, Jiří Litzman, Jiří Litzman, David Šmajs, Tomáš Freiberger, Tomáš Freiberger, Tomáš Freiberger
Published 2019-08-01

The Impact of DNA Extraction Methods on Stool Bacterial and Fungal Microbiota Community Recovery

by Kristýna Fiedorová, Kristýna Fiedorová, Kristýna Fiedorová, Matěj Radvanský, Eva Němcová, Hana Grombiříková, Juraj Bosák, Michaela Černochová, Matej Lexa, David Šmajs, Tomáš Freiberger, Tomáš Freiberger, Tomáš Freiberger
Published 2019-04-01

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