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Sebastian Fuchs
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Journal Articles

Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome

Sandra Ammann, Ansgar Schulz, Ingeborg Krägeloh-Mann, Nele M. G. Dieckmann, Klaus Niethammer, Sebastian Fuchs, Katja Martina Eckl, Roswitha Plank, Roland Werner, Janine Altmüller, Holger Thiele, Peter Nürnberg, Julia Bank, Anne Strauss, Horst von Bernuth, Udo zur Stadt, Samantha Grieve, Gillian M. Griffiths, Kai Lehmberg, Hans Christian Hennies, Stephan Ehl
Journal: Blood
Blood (2016) 127 (8): 997–1006.
https://doi.org/10.1182/blood-2015-09-671636
Published: 2016
Includes: Supplemental data
Journal Articles

Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency

Sebastian Fuchs, Anne Rensing-Ehl, Ulrich Pannicke, Myriam R. Lorenz, Paul Fisch, Yogesh Jeelall, Jan Rohr, Carsten Speckmann, Thomas Vraetz, Susan Farmand, Annette Schmitt-Graeff, Marcus Krüger, Brigitte Strahm, Philipp Henneke, Anselm Enders, Keisuke Horikawa, Christopher Goodnow, Klaus Schwarz, Stephan Ehl
Journal: Blood
Blood (2015) 126 (14): 1658–1669.
https://doi.org/10.1182/blood-2015-03-631374
Published: 2015
Includes: Supplemental data
Journal Articles

Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency

Clinical Trials & Observations
Polina Stepensky, Anne Rensing-Ehl, Ruth Gather, Shoshana Revel-Vilk, Ute Fischer, Schafiq Nabhani, Fabian Beier, Tim H. Brümmendorf, Sebastian Fuchs, Simon Zenke, Elke Firat, Vered Molho Pessach, Arndt Borkhardt, Mirzokhid Rakhmanov, Bärbel Keller, Klaus Warnatz, Hermann Eibel, Gabriele Niedermann, Orly Elpeleg, Stephan Ehl
Journal: Blood
Blood (2015) 125 (5): 753–761.
https://doi.org/10.1182/blood-2014-08-593202
Published: 2015
Includes: Supplemental data