Partial STX11 deficiency due to a hypomorphic variant-self-limiting inflammatory disease preceding HLH onset
- Author(s)
- Noori, T; Kaur, A; Kambay, AH; Banday, AZ; Voskoboinik, I;
- Details
- Publication Year 2025-11-03,Volume 1,Issue #4,Page e20250100
- Journal Title
- Journal of Human Immunity
- Publication Type
- Research article
- Abstract
- A hypomorphic STX11 variant (L135P) was identified in a patient with suspected atypical familial hemophagocytic lymphohistiocytosis (HLH). Functional validation confirms partial cytotoxic deficiency associated with a self-limiting inflammatory phenotype that may precede the clinical onset of full-blown HLH.
- Publisher
- Rockefeller University Press
- Department(s)
- Laboratory Research
- Publisher's Version
- https://doi.org/10.70962/jhi.20250100
- Open Access at Publisher's Site
https://doi.org/10.70962/jhi.20250100- Terms of Use/Rights Notice
- Refer to copyright notice on published article.
Creation Date: 2026-06-16 02:11:45
Last Modified: 2026-06-16 02:11:53