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Allogeneic hematopoietic cell transplantation is curative in CARMIL2 deficiency

Lookup NU author(s): Dr Venetia BigleyORCiD, Dr Christo TsilifisORCiD

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This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).

Abstract

Biallelic loss-of-function variants in Capping protein regulator and myosin 1 linker 2(CARMIL2) cause a complex disorder of immune dysregulation hallmarked bysusceptibility to infections, inflammatory bowel and skin disease, and Epstein–Barrvirus-positive smooth muscle tumors (EBV+ SMTs). We report a multicenterretrospective study to evaluate hematopoietic cell transplantation (HCT) outcomes inCARMIL2-deficient patients. Seventeen patients underwent 19 HCTs, with a totalfollow-up of 768 months and a median follow-up of 37 months (range, 1–195). Threepatients died during the early post-transplant period (overall survival, 82.4%), and tworequired a second HCT for graft failure. Despite limitations due to cohort size and highmorbidity in individual patients, HCT improved all major disease manifestations,including infections, inflammatory disease, and previously treatment-refractory EBV+SMTs. No patient required immunoglobulin replacement post-HCT and no detrimentaleffects of mixed chimerism were noted. Allogeneic HCT is therefore a curative optionfor patients with CARMIL2 deficiency, which should be offered upon diagnosis.

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Author(s): Raedler J, Gothe F, Magg T, Peters P, Martinsen KHB, Holzer U, Kiykim A, Ucar AK, Abraham RS, Rangarajan HG, Eddin AN, Stepensky P, Zaidman I, Even-Or E, Kuehl J-S, Graefe D, Bigley V, Tsilifis C, Fasth A, Mahlaoui N, Wegehaupt O, Speckmann C, Casanova J-L, Klein C, Neven B, Beizt V, Levy R, Hauck F

Publication type: Article

Publication status: Published

Journal: Journal of Human Immunity

Year: 2026

Volume: 2

Issue: 5

Print publication date: 07/09/2026

Online publication date: 29/07/2026

Acceptance date: 08/07/2026

Date deposited: 09/07/2026

ISSN (electronic): 3065-8993

Publisher: Rockefeller University Press

URL: https://doi.org/10.70962/jhi.20250200

DOI: 10.70962/jhi.20250200

Data Access Statement: Deidentified data or a copy of the online survey may be available upon reasonable request by email to the corresponding author.

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