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Jana Pachlopnik-Schmid
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Journal Articles

ADA2 genotype and enzyme activity may predict vasculitic or hematologic DADA2 phenotype

Philipp Peters, Johanna Schepp, Michael H. Albert, Horst von Bernuth, Norbert Blank, Jürgen Brunner, Gregor Dückers, Lisa Ehlers, Susan Farmand, Dirk Föll, Elisabeth Förster-Waldl, Janina Gburek-Augustat, Sujal Ghosh, Lisa Göschl, Marc Hömberg, Manfred Hönig, Tilmann Kallinich, Christian Klemann, Leah Klingel, Udo Kontny, Lisa-Maria Kuhn, Peter Lamprecht, Kai Lehmberg, Almut Meyer-Bahlburg, Ingo Müller, Michaela Nathrath, Tim Niehues, Prasad T. Oommen, Jana Pachlopnik Schmid, Seraina Prader, Alexander Puzik, Raffaele Renella, Ansgar Schulz, Andrea Skrabl-Baumgartner, Sven Starke, Teresa K. Tarrant, Michael Hershfield, Bodo Grimbacher, Fabian Hauck
Journal: Journal of Human Immunity
J Hum Immun (2026) 2 (5): e20250108.
https://doi.org/10.70962/jhi.20250108
Published: 16 June 2026
View article titled, ADA2 genotype and enzyme activity may predict vasculitic or hematologic DADA2 phenotype
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Includes: Supplementary data
Journal Articles

S220 Variants of Human CD48 Result in Aberrant Glycosylphosphatidylinositol (GPI) Linkage and Dominant-Negative CD48 Cellular Deficiency

Erin Kim, Sudip Acharya, Carson Williams, Zoe Manning, Jack Roser, Angelica Ehler, Cullen Dutmer, Jana Pachlopnik-Schmid, Jordan Abbott
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2026
J Hum Immun (2026) 2 (CIS2026): eCIS2026abstract.95.
https://doi.org/10.70962/CIS2026abstract.95
Published: 01 May 2026
View article titled, S220 Variants of Human CD48 Result in Aberrant Glycosylphosphatidylinositol (GPI) Linkage and Dominant-Negative CD48 Cellular Deficiency
Journal Articles

A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds

Pauline Ober, Christelle Lenoir, Arnaud Maillard, Marie-Gabrielle Vigue, Marjolaine Willems, Sandrine Baron-Joly, Carole E. Aubert, Eva Maria Tinner, Nathalie Lambert, Iben El Missaoui, Frédéric Parisot, Antoine Fayand, Yoann Seeleuthner, Sylvain Hanein, Tom Le Voyer, Martin Broly, Guilaine Boursier, Jean-Laurent Casanova, Peng Zhang, Jana Pachlopnik Schmid, Sylvain Latour, Jérémie Rosain
Journal: Journal of Human Immunity
J Hum Immun (2025) 2 (1): e20250181.
https://doi.org/10.70962/jhi.20250181
Published: 30 October 2025
View article titled, A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds
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