Leaky RAG Deficiency in Adult Patients with Impaired Antibody Production against Bacterial Polysaccharide Antigens.

by Christoph B Geier, Alexander Piller, Angela Linder, Kai M T Sauerwein, Martha M Eibl, Hermann M Wolf
Published 2015-01-01

Hypomorphic Mutations in the BCR Signalosome Lead to Selective Immunoglobulin M Deficiency and Impaired B-cell Homeostasis

by Christoph B. Geier, Kai M. T. Sauerwein, Alexander Leiss-Piller, Isabella Zmek, Michael B. Fischer, Michael B. Fischer, Martha M. Eibl, Martha M. Eibl, Hermann M. Wolf, Hermann M. Wolf
Published 2018-12-01

Case Report: A Novel IL2RG Frame-Restoring Rescue Mutation Mimics Early T Cell Engraftment Following Haploidentical Hematopoietic Stem Cell Transplantation in a Patient With X-SCID

by Jolanda Steininger, Alexander Leiss-Piller, Christoph B. Geier, Raphael Rossmanith, Reem Elfeky, David Bra, Herbert Pichler, Anita Lawitschka, Natascha Zubarovskaya, Gottfried Artacker, Susanne Matthes-Leodolter, Martha M. Eibl, Martha M. Eibl, Hermann M. Wolf, Hermann M. Wolf
Published 2021-04-01

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

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