Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Leiss-Piller A"'
Autor:
Raphael Rossmanith, Kai Sauerwein, Christoph B. Geier, Alexander Leiss-Piller, Roman F. Stemberger, Svetlana Sharapova, Robert W. Gruber, Helmut Bergler, James W. Verbsky, Krisztian Csomos, Jolan E. Walter, Hermann M. Wolf
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
BackgroundTrichothiodystrophy-1 (TTD1) is an autosomal-recessive disease and caused by mutations in ERCC2, a gene coding for a subunit of the TFIIH transcription and nucleotide-excision repair (NER) factor. In almost half of these patients infectious
Externí odkaz:
https://doaj.org/article/1b5d1168f41441349e90021ee7aec36e
Akademický článek
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Akademický článek
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Autor:
Jolanda Steininger, Raphael Rossmanith, Christoph B. Geier, Alexander Leiss-Piller, Lukas Thonhauser, Simone Weiss, Johannes A. Hainfellner, Michael Freilinger, Wolfgang M. Schmidt, Martha M. Eibl, Hermann M. Wolf
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
X-linked lymphoproliferative disease (XLP1) is a combined immunodeficiency characterized by severe immune dysregulation caused by mutations in the SH2D1A/SAP gene. Loss or dysfunction of SH2D1A is associated with the inability in clearing Epstein-Bar
Externí odkaz:
https://doaj.org/article/2eebc92408de435f91bba4bf07cc47a5
Autor:
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, Hermann M. Wolf
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
Mutations of the interleukin 2 receptor γ chain (IL2RG) result in the most common form of severe combined immunodeficiency (SCID), which is characterized by severe and persistent infections starting in early life with an absence of T cells and natur
Externí odkaz:
https://doaj.org/article/2b77362089564493a8a81cc8686be4d6
Autor:
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 Milota, Renata Formánková, Anna Szaflarska, Maciej Siedlar, Tadej Avčin, Gašper Markelj, Peter Ciznar, Krzysztof Kalwak, Sylwia Kołtan, Teresa Jackowska, Katarzyna Drabko, 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, 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, Irina V. Kondratenko, Anna Šedivá, Mirjam van der Burg, Natalia B. Kuzmenko, Luigi D. Notarangelo, Ewa Bernatowska, Olga V. Aleinikova
Publikováno v:
Frontiers in Immunology, Vol 11 (2020)
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 wi
Externí odkaz:
https://doaj.org/article/9b03aece41064fa7ac129d44af5c221a
Autor:
Christoph B. Geier, Maryssa Ellison, Rachel Cruz, Sumit Pawar, Alexander Leiss-Piller, Katarina Zmajkovicova, Shannon M McNulty, Melis Yilmaz, Martin Oman Evans, Sumai Gordon, Boglarka Ujhazi, Ivana Wiest, Hassan Abolhassani, Asghar Aghamohammadi, Sara Barmettler, Saleh Bhar, Anastasia Bondarenko, Audrey Anna Bolyard, David Buchbinder, Michaela Cada, Mirta Cavieres, James A. Connelly, David C. Dale, Ekaterina Deordieva, Morna J. Dorsey, Simon B. Drysdale, Stephan Ehl, Reem Elfeky, Francesca Fioredda, Frank Firkin, Elizabeth Förster-Waldl, Bob Geng, Vera Goda, Luis Gonzalez-Granado, Eyal Grunebaum, Elzbieta Grzesk, Sarah E. Henrickson, Anna Hilfanova, Mitsuteru Hiwatari, Chihaya Imai, Winnie Ip, Soma Jyonouchi, Hirokazu Kanegane, Yuta Kawahara, Amer M. Khojah, Vy Hong-Diep Kim, Marina Kojić, Sylwia Kołtan, Gergely Krivan, Daman Langguth, Yu-Lung Lau, Daniel Leung, Maurizio Miano, Irina Mersyanova, Talal Mousallem, Mica Muskat, Flavio A. Naoum, Suzie A. Noronha, Monia Ouederni, Shuichi Ozono, G. Wendell Richmond, Inga Sakovich, Ulrich Salzer, Catharina Schuetz, Filiz Odabasi Seeborg, Svetlana O. Sharapova, Katja Sockel, Alla Volokha, Malte von Bonin, Klaus Warnatz, Oliver Wegehaupt, Geoffrey A. Weinberg, Ke-Juin Wong, Austen Worth, Huang Yu, Yulia Zharankova, Xiaodong Zhao, Lisa Devlin, Adriana Badarau, Krisztian Csomos, Marton Keszei, Joao Pereira, Arthur G Taveras, Sarah L. Beaussant-Cohen, Mei-Sing Ong, Anna Shcherbina, Jolan E. Walter
Publikováno v:
Journal of Clinical Immunology. 42:1748-1765
Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome (WS) is a combined immunodeficiency caused by gain-of-function mutations in the C-X-C chemokine receptor type 4 (CXCR4) gene. We characterize a unique international cohort of
Autor:
Lucila Akune Barreiros, Jusley Lira Sousa, Christoph Geier, Alexander Leiss-Piller, Marilia Pylles Patto Kanegae, Tábata Takahashi França, Bertrand Boisson, Alessandra Miramontes Lima, Beatriz Tavares Costa-Carvalho, Carolina Sanchez Aranda, Maria Isabel de Moraes-Pinto, Gesmar Rodrigues Silva Segundo, Janaira Fernandes Severo Ferreira, Fabíola Scancetti Tavares, Flávia Alice Timburiba de Medeiros Guimarães, Eliana Cristina Toledo, Ana Carolina da Matta Ain, Iramirton Figueirêdo Moreira, Gustavo Soldatelli, Anete Sevciovic Grumach, Mayra de Barros Dorna, Cristina Worm Weber, Regina Sumiko Watanabe Di Gesu, Vera Maria Dantas, Fátima Rodrigues Fernandes, Troy Robert Torgerson, Hans Dietrich Ochs, Jacinta Bustamante, Jolan Eszter Walter, Antonio Condino-Neto
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Universidade de São Paulo (USP)
instacron:USP
Severe combined immunodeficiency, SCID, is a pediatric emergency that represents the most critical group of inborn errors of immunity (IEI). Affected infants present with early onset life-threatening infections due to absent or non-functional T cells
Autor:
Christoph B. Geier, Kai M. T. Sauerwein, Alexander Leiss-Piller, Isabella Zmek, Michael B. Fischer, Martha M. Eibl, Hermann M. Wolf
Publikováno v:
Frontiers in Immunology, Vol 9 (2018)
B cell activation via the B cell receptor (BCR) signalosome involves participation of signaling molecules such as BTK and BLNK. Genetic defects in these molecules are known to impair B cell differentiation and subsequently lead to agammaglobulinemia.
Externí odkaz:
https://doaj.org/article/f8f0c62524f34c26822bffbdec8a3f16
Akademický článek
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