Vasculitis as a Major Morbidity Factor in Patients With Partial RAG Deficiency

by Christoph B. Geier, Jocelyn R. Farmer, Zsofia Foldvari, Boglarka Ujhazi, Jolanda Steininger, John W. Sleasman, Suhag Parikh, Meredith A. Dilley, Sung-Yun Pai, Sung-Yun Pai, Sung-Yun Pai, Lauren Henderson, Melissa Hazen, Benedicte Neven, Benedicte Neven, Benedicte Neven, Despina Moshous, Despina Moshous, Despina Moshous, Svetlana O. Sharapova, Snezhina Mihailova, Petya Yankova, Elisaveta Naumova, Seza Özen, Kevin Byram, James Fernandez, Hermann M. Wolf, Hermann M. Wolf, Martha M. Eibl, Martha M. Eibl, Luigi D. Notarangelo, Leonard H. Calabrese, Jolan E. Walter, Jolan E. Walter
Published 2020-10-01

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

by 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
Published 2021-01-01

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

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syn...

by Maria Elena Maccari, Maria Elena Maccari, Hassan Abolhassani, Hassan Abolhassani, Asghar Aghamohammadi, Alessandro Aiuti, Olga Aleinikova, Catherine Bangs, Safa Baris, Federica Barzaghi, Helen Baxendale, Matthew Buckland, Siobhan O. Burns, Caterina Cancrini, Caterina Cancrini, Andrew Cant, Pascal Cathébras, Marina Cavazzana, Marina Cavazzana, Marina Cavazzana, Anita Chandra, Anita Chandra, Francesca Conti, Francesca Conti, Tanya Coulter, Lisa A. Devlin, J. David M. Edgar, Saul Faust, Alain Fischer, Alain Fischer, Alain Fischer, Marina Garcia Prat, Lennart Hammarström, Maximilian Heeg, Maximilian Heeg, Stephen Jolles, Elif Karakoc-Aydiner, Gerhard Kindle, Ayca Kiykim, Dinakantha Kumararatne, Bodo Grimbacher, Hilary Longhurst, Nizar Mahlaoui, Nizar Mahlaoui, Tomas Milota, Fernando Moreira, Despina Moshous, Despina Moshous, Despina Moshous, Anna Mukhina, Olaf Neth, Benedicte Neven, Benedicte Neven, Benedicte Neven, Alexandra Nieters, Peter Olbrich, Ahmet Ozen, Jana Pachlopnik Schmid, Capucine Picard, Capucine Picard, Seraina Prader, William Rae, Janine Reichenbach, Stephan Rusch, Sinisa Savic, Alessia Scarselli, Alessia Scarselli, Raphael Scheible, Anna Sediva, Svetlana O. Sharapova, Anna Shcherbina, Mary Slatter, Pere Soler-Palacin, Aurelie Stanislas, Felipe Suarez, Francesca Tucci, Annette Uhlmann, Joris van Montfrans, Klaus Warnatz, Anthony Peter Williams, Phil Wood, Sven Kracker, Sven Kracker, Alison Mary Condliffe, Stephan Ehl, Stephan Ehl
Published 2018-03-01