Work

Partial STX11 deficiency due to a hypomorphic variant—self-limiting inflammatory disease preceding HLH onset

Year: 2025

Type: 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.

Source: Journal of Human Immunity

DOI: 10.70962/jhi.20250100

Authors: Tahereh Noori, Anit Kaur, Altaf Hussain Kambay, Aaqib Zaffar Banday, Ilia Voskoboinik

Institutions: Peter MacCallum Cancer Centre, Post Graduate Institute of Medical Education and Research, Government Medical College, The University of Melbourne

Language: English

Topic: Autoimmune and Inflammatory Disorders Research

Subfield: Hematology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

Funders: Peter MacCallum Cancer Centre, Medical Research Council, National Health and Medical Research Council