U
Ulrich Salzer
Researcher at University of Freiburg
Publications - 156
Citations - 10482
Ulrich Salzer is an academic researcher from University of Freiburg. The author has contributed to research in topics: Common variable immunodeficiency & Immunodeficiency. The author has an hindex of 44, co-authored 148 publications receiving 9149 citations. Previous affiliations of Ulrich Salzer include University of Zurich & University Medical Center Freiburg.
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Journal ArticleDOI
Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.
Erik-Oliver Glocker,Daniel Kotlarz,Kaan Boztug,E. Michael Gertz,Alejandro A. Schäffer,Fatih Noyan,Mario Perro,Jana Diestelhorst,Anna Allroth,Dhaarini Murugan,Nadine Hätscher,Dietmar Pfeifer,Karl-Walter Sykora,Martin Sauer,Hans Kreipe,Martin Lacher,Rainer Nustede,Cristina Woellner,Ulrich Baumann,Ulrich Salzer,Sibylle Koletzko,Neil Shah,Anthony W. Segal,Axel Sauerbrey,Stephan Buderus,Scott B. Snapper,Bodo Grimbacher,Christoph Klein +27 more
TL;DR: Mutations in genes encoding the IL10R subunit proteins were found in patients with early-onset enterocolitis, involving hyperinflammatory immune responses in the intestine, and resulted in disease remission in one patient.
Journal ArticleDOI
A Homozygous CARD9 Mutation in a Family with Susceptibility to Fungal Infections
Erik-Oliver Glocker,André Hennigs,Mohammad Nabavi,Alejandro A. Schäffer,Cristina Woellner,Ulrich Salzer,Dietmar Pfeifer,Hendrik Veelken,Klaus Warnatz,F Tahami,Sarah Jamal,Annabelle Manguiat,Nima Rezaei,Ali Akbar Amirzargar,Alessandro Plebani,Nicole Hannesschläger,Olaf Gross,Jürgen Ruland,Bodo Grimbacher +18 more
TL;DR: Functional studies based on genetic reconstitution of myeloid cells from Card9(-/-) mice showed that the Q295X mutation impairs innate signaling from the antifungal pattern-recognition receptor dectin-1.
Journal ArticleDOI
Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations.
Desirée Schubert,Desirée Schubert,Claudia Bode,Rupert Kenefeck,Tie Zheng Hou,James B. Wing,Alan Kennedy,Alla Bulashevska,Britt-Sabina Petersen,Alejandro A. Schäffer,Björn Grüning,Susanne Unger,Natalie Frede,Ulrich Baumann,Torsten Witte,Reinhold E. Schmidt,G Dueckers,Tim Niehues,Suranjith L. Seneviratne,Maria Kanariou,Carsten Speckmann,Stephan Ehl,Anne Rensing-Ehl,Klaus Warnatz,Mirzokhid Rakhmanov,Robert Thimme,Peter Hasselblatt,Florian Emmerich,Toni Cathomen,Rolf Backofen,Paul Fisch,Maximilian Seidl,Annette M. May,Annette Schmitt-Graeff,Shinji Ikemizu,Ulrich Salzer,Andre Franke,Shimon Sakaguchi,Lucy S. K. Walker,David M. Sansom,Bodo Grimbacher +40 more
TL;DR: Taking together, mutations in CTLA4 resulting inCTLA-4 haploinsufficiency or impaired ligand binding result in disrupted T and B cell homeostasis and a complex immune dysregulation syndrome.
Journal ArticleDOI
Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans
Ulrich Salzer,Helen Chapel,A. D. B. Webster,Qiang Pan-Hammarström,Annette Schmitt-Graeff,Michael Schlesier,Hans-Hartmut Peter,Jürgen K. Rockstroh,Pascal Schneider,Alejandro A. Schäffer,Lennart Hammarström,Bodo Grimbacher +11 more
TL;DR: Heterozygosity with respect to mutations causing the amino acid substitutions S144X and C104R abrogated APRIL binding and resulted in loss of TACI function, as evidenced by impaired proliferative response to IgM-APRIL costimulation and defective class switch recombination induced by IL-10 and APRIL or BAFF.
Journal ArticleDOI
Deleterious Mutations in LRBA Are Associated with a Syndrome of Immune Deficiency and Autoimmunity
G Lopez-Herrera,Giacomo Tampella,Qiang Pan-Hammarström,Peer Herholz,Claudia M. Trujillo-Vargas,Claudia M. Trujillo-Vargas,Kanchan Phadwal,Anna Katharina Simon,Anna Katharina Simon,Michel Moutschen,Amos Etzioni,Adi Mory,Izhak Srugo,Doron Melamed,Kjell Hultenby,Chonghai Liu,Chonghai Liu,Manuela Baronio,Massimiliano Vitali,Pierre Philippet,Vinciane Dideberg,Asghar Aghamohammadi,Nima Rezaei,Victoria Enright,Likun Du,Ulrich Salzer,Hermann Eibel,Dietmar Pfeifer,Hendrik Veelken,Hans J. Stauss,Vassilios Lougaris,Alessandro Plebani,E. Michael Gertz,Alejandro A. Schäffer,Lennart Hammarström,Bodo Grimbacher +35 more
TL;DR: It is concluded that mutations in LRBA cause an immune deficiency characterized by defects in B cell activation and autophagy and by susceptibility to apoptosis, all of which are associated with a clinical phenotype of hypogammaglobulinemia and autoimmunity.