Authors
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
Published in
Journal of human immunity. Volume 2. Issue 5. Pages e20250108. Sep 07, 2026. Epub Jun 16, 2026.
Abstract
Deficiency of adenosine deaminase 2 (DADA2) is an autoinflammatory disease with diverse phenotypes. We describe the genetics, phenotypes, and treatment of n = 48 DADA2 patients from Germany, Austria, and Switzerland. We report a high incidence of hematological (83%) and immunological features (85%), a comparatively low anti-tumor necrosis factor full-response rate (58%), and a high decision probability (21%) for hematopoietic cell transplantation (HCT). We establish a correlation between genetic variant ADA2 activity and patient ADA2 activity. Remarkably, lower patient ADA2 activity is predictive of neutropenia and shows a trend toward HCT decision, whereas higher patient ADA2 activity is predictive of vasculitis symptoms. Genetic variants with low residual ADA2 activity are significantly more common among patients receiving HCT. Our study corroborates previous observations connecting ADA2 activity and clinical phenotype, which up to now have been mainly based on in vitro data.
PMID:
42312136
Bibliographic data and abstract were imported from PubMed on 18 Jun 2026.
Read full publication at:
Please sign in
to see all details.
Advertisement
Stats
- Recommendations n/a n/a positive of 0 vote(s)
- Views 2
- Comments 0