PulseExploreJournal ClubDebatesTrendingResearchersJournals
Instagram
HomeExploreJournal ClubTrending
Synapse
⌘+K
Synapse
October 9, 20251 citationsOpen Access

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

View Full Paper
TNTahereh NooriAKA KaurAKAltaf Hussain Kambay

Key Points

  • Self-limiting inflammatory disease identified in a patient with a hypomorphic STX11 variant, leading to HLH.
  • In vitro analysis confirmed atypical familial hemophagocytic lymphohistiocytosis (FHL) diagnosis for the patient.
  • Clinicians proceeded confidently with hematopoietic stem cell transplantation based on definitive mutation findings.
  • The study highlights the relevance of characterizing uncharacterized mutations in clinical decision-making.

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.

Ask AI
Helpful
Bookmark
Share
View Full Paper

Cite This Study

Noori et al. (2025) studied this question.

synapsesocial.com/papers/68e70db290569dd607ee60bdhttps://doi.org/10.70962/jhi.20250100
Ask AI
Helpful
Bookmark
Share
View Full Paper

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1The Spectrum of Clinical, Immunological, and Molecular Findings in Familial Hemophagocytic Lymphohistiocytosis: Experience From India2021 · 32 citations
  2. 2A cell-based functional assay that accurately links genotype to phenotype in Familial HLH2023 · 14 citations
  3. 3Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 112005 · 563 citations
  4. 4Familial hemophagocytic lymphohistiocytosis type 4 (FHL4) with a rare STX11 genetic variation and leukoencephalopathy: a case report2025 · 1 citations
  5. 5Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer2009 · 136 citations