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

Recently developed in vitro technology was used to define the function of a previously uncharacterized STX11 mutation L135P present in a patient with atypical FHL. The results confirmed the FHL diagnosis and enabled clinicians to proceed with assurance to hematopoietic stem cell transplantation.

Authors

Ilia Voskoboinik (ORCID: https://orcid.org/0000-0002-6410-009X)
A Kaur (ORCID: https://orcid.org/0000-0002-9862-1870)
Aaqib Zaffar Banday (ORCID: https://orcid.org/0000-0001-5486-4267)
Tahereh Noori (ORCID: https://orcid.org/0000-0002-8746-5841)
Altaf Hussain Kambay

Institutions

Government Medical College (IN)
Peter MacCallum Cancer Centre (AU)
Post Graduate Institute of Medical Education and Research (IN)

Publication Details

Journal: Journal of Human Immunity
Published: 2025-10-07
DOI: https://doi.org/10.70962/jhi.20250100
Primary Topic: Immunodeficiency and Autoimmune Disorders
Type: article
Field-Weighted Citation Impact: 0.00

Funders

Peter MacCallum Cancer Centre
Medical Research Council
National Health and Medical Research Council

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article

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

Ilia Voskoboinik, A Kaur, Aaqib Zaffar Banday, Tahereh Noori et al.

Oct 7, 2025

Journal of Human Immunity

Immunodeficiency and Autoimmune Disorders

article

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

Ilia Voskoboinik, A Kaur, Aaqib Zaffar Banday, Tahereh Noori, Altaf Hussain Kambay

October 7, 2025article en

Abstract

Recently developed in vitro technology was used to define the function of a previously uncharacterized STX11 mutation L135P present in a patient with atypical FHL. The results confirmed the FHL diagnosis and enabled clinicians to proceed with assurance to hematopoietic stem cell transplantation.

Journal of Human ImmunityVol. 1(4)

Government Medical College (IN), Peter MacCallum Cancer Centre (AU), Post Graduate Institute of Medical Education and Research (IN)

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

Openalex Percentile: Top 71%

Immunodeficiency and Autoimmune Disorders

DOI Open Access PDF OpenAlex

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Partial STX11 deficiency due to a hypomorphic variant—self-limiting inflammatory disease preceding HLH onset — Ilia Voskoboinik, A Kaur, et al. · Journal of Human Immunity (2025) | TGRS Research Map | TGRS