R
Reinhard Seger
Researcher at University of Zurich
Publications - 56
Citations - 4258
Reinhard Seger is an academic researcher from University of Zurich. The author has contributed to research in topics: Chronic granulomatous disease & Hematopoietic stem cell transplantation. The author has an hindex of 22, co-authored 56 publications receiving 4022 citations. Previous affiliations of Reinhard Seger include University of Ulm & University of Massachusetts Medical School.
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Journal ArticleDOI
Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1.
Marion Ott,Manfred Schmidt,Kerstin Schwarzwaelder,Stefan Stein,Ulrich Siler,Ulrike Koehl,Hanno Glimm,K. Kühlcke,Andrea Schilz,Hana Kunkel,Sonja Naundorf,Andrea Brinkmann,Annette Deichmann,Marlene Fischer,Claudia R. Ball,Ingo H. Pilz,Cynthia E. Dunbar,Yang Du,Nancy A. Jenkins,Neal G. Copeland,Ursula Lüthi,Moustapha Hassan,Adrian J. Thrasher,Dieter Hoelzer,Christof von Kalle,Reinhard Seger,Manuel Grez +26 more
TL;DR: The results suggest that gene therapy in combination with bone marrow conditioning can be successfully used to treat inherited diseases affecting the myeloid compartment such as CGD.
Journal ArticleDOI
Genomic instability and myelodysplasia with monosomy 7 consequent to EVI1 activation after gene therapy for chronic granulomatous disease
Stefan Stein,Marion Ott,Stephan Schultze-Strasser,Anna Jauch,Barbara Burwinkel,Barbara Burwinkel,Andrea Kinner,Manfred Schmidt,Alwin Krämer,Joachim Schwäble,Hanno Glimm,Ulrike Koehl,Carolin Preiss,Claudia R. Ball,Hans Martin,Gudrun Göhring,Kerstin Schwarzwaelder,Wolf K. Hofmann,Kadin Karakaya,Sandrine Tchatchou,Sandrine Tchatchou,Rongxi Yang,Rongxi Yang,Petra Reinecke,Klaus Kühlcke,Brigitte Schlegelberger,Adrian J. Thrasher,Dieter Hoelzer,Reinhard Seger,Christof von Kalle,Manuel Grez +30 more
TL;DR: It is shown that forced overexpression of EVI1 in human cells disrupts normal centrosome duplication, linking EVI 1 activation to the development of genomic instability, monosomy 7 and clonal progression toward myelodysplasia.
Journal ArticleDOI
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis
Luyan Liu,Satoshi Okada,Xiao-Fei Kong,Alexandra Y. Kreins,Sophie Cypowyj,Avinash Abhyankar,Julie Toubiana,Yuval Itan,Magali Audry,Patrick Nitschke,Cécile Masson,Beáta Tóth,Jérome Flatot,Mélanie Migaud,Maya Chrabieh,Tatiana Kochetkov,Alexandre Bolze,Alexandre Bolze,Alessandro Borghesi,Antoine Toulon,J. Hiller,Stefanie Eyerich,Kilian Eyerich,Vera Gulácsy,Ludmyla Chernyshova,Viktor P. Chernyshov,Anastasia Bondarenko,Rosa María Cortés Grimaldo,Lizbeth Blancas-Galicia,Ileana Maria Madrigal Beas,Joachim Roesler,Klaus Magdorf,Dan Engelhard,Caroline Thumerelle,Pierre-Régis Burgel,Miriam Hoernes,Barbara Drexel,Reinhard Seger,Theresia Kusuma,Annette Jansson,Julie Sawalle-Belohradsky,Bernd H. Belohradsky,Emmanuelle Jouanguy,Emmanuelle Jouanguy,Jacinta Bustamante,Mélanie Bué,Nathan Karin,Gizi Wildbaum,Christine Bodemer,Olivier Lortholary,Alain Fischer,Stéphane Blanche,Saleh Al-Muhsen,Janine Reichenbach,Masao Kobayashi,Francisco Espinosa Rosales,Carlos Torres Lozano,Sara Sebnem Kilic,Matías Oleastro,Amos Etzioni,Claudia Traidl-Hoffmann,Ellen D. Renner,Laurent Abel,Laurent Abel,Capucine Picard,Capucine Picard,László Maródi,Stéphanie Boisson-Dupuis,Stéphanie Boisson-Dupuis,Anne Puel,Jean-Laurent Casanova +70 more
TL;DR: Whole-exome sequencing reveals activating STAT1 mutations in some patients with autosomal dominant chronic mucocutaneous candidiasis disease.
Journal ArticleDOI
RAG Mutations in Human B Cell-Negative SCID
Klaus Schwarz,George H. Gauss,Leopold Ludwig,Ulrich Pannicke,Zhong Li,Doris Lindner,Wilhelm Friedrich,Reinhard Seger,T. E. Hansen-Hagge,Stephen Desiderio,Michael R. Lieber,Claus R. Bartram +11 more
TL;DR: Six of 14 B− SCID patients tested were found to carry a mutation of the recombinase activating gene 1 (RAG-1), RAG-2, or both that resulted in a functional inability to form antigen receptors through genetic recombination and links a defect in one of the site-specific recombination systems to a human disease.
Journal ArticleDOI
Allogeneic hematopoietic stem-cell transplantation for leukocyte adhesion deficiency.
Waseem Qasim,Marina Cavazzana-Calvo,EG Davies,Jeffrey H. Davis,Michel Duval,Gretchen Eames,N Farinha,A Filopovich,Alain Fischer,Wilhelm Friedrich,Andrew R. Gennery,Carsten Heilmann,Paul Landais,Mitchell E. Horwitz,Fulvio Porta,Petr Sedlacek,Reinhard Seger,M Slatten,Lochie Teague,Mary Eapen,Paul Veys +20 more
TL;DR: Hematopoietic stem- cell transplantation offers long-term benefit in leukocyte adhesion deficiency and should be considered as an early therapeutic option if a suitable HLA-matched stem-cell donation is available.