Authors
Johannes Raedler, Florian Gothe, Thomas Magg, Philipp Peters, Karen Helene Bronken Martinsen, Ursula Holzer, Ayca Kiykim, Ayse Kalyoncu Ucar, Roshini S Abraham, Hemalatha G Rangarajan, Adeeb NaserEddin, Polina Stepensky, Irina Zaidman, Ehud Even-Or, Joern-Sven Kuehl, Daniel Graefe, Venetia Bigley, Christo Tsilifis, Anders Fasth, Nizar Mahlaoui, Oliver Wegehaupt, Carsten Speckmann, Jean-Laurent Casanova, Christoph Klein, Bénédicte Neven, Vivien Béziat, Romain Lévy, Fabian Hauck
Published in
Journal of human immunity. Volume 2. Issue 5. Pages e20250200. Sep 07, 2026. Epub Jul 29, 2026.
Abstract
Biallelic loss-of-function variants in capping protein regulator and myosin 1 linker 2 (CARMIL2) cause a complex disorder of immune dysregulation hallmarked by susceptibility to infections, inflammatory bowel and skin disease, and Epstein-Barr virus-positive smooth muscle tumors (EBV+ SMTs). We report a multicenter retrospective study to evaluate hematopoietic cell transplantation (HCT) outcomes in CARMIL2-deficient patients. 17 patients underwent 19 HCTs, with a total follow-up of 768 mo and a median follow-up of 37 mo (range 1-195). Three patients died during the early posttransplant period (overall survival, 82.4%), and two required a second HCT for graft failure. Despite limitations due to cohort size and high pre-transplant morbidity in individual patients, HCT improved all major disease manifestations, including infections, inflammatory disease, and previously treatment-refractory EBV+ SMTs. No patient required immunoglobulin replacement after HCT, and no detrimental effects of mixed chimerism were noted. Allogeneic HCT is therefore a curative option for patients with CARMIL2 deficiency, which should be offered upon diagnosis.
PMID:
42529607
Bibliographic data and abstract were imported from PubMed on 30 Jul 2026.
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