Evidence map›Paper›PMID 40491431›Full record

ArticleFrontiers in cellular and infection microbiology2025

A novel loss-of-function variant in

Kunlun Lv, Zhuoqing Gong, Yiting Fu, Sisi Zhao, Yinggai Song, Huijun Wang, Zhimiao Lin

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in cellular and infection microbiology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Kunlun LvDermatology Hospital, Southern Medical University, Guangzhou, China.
Zhuoqing GongDermatology Hospital, Southern Medical University, Guangzhou, China.
Yiting FuDermatology Hospital, Southern Medical University, Guangzhou, China.
Sisi ZhaoDermatology Hospital, Southern Medical University, Guangzhou, China.
Yinggai SongDepartment of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases, Beijing, China.
Huijun WangDermatology Hospital, Southern Medical University, Guangzhou, China.
Zhimiao LinDermatology Hospital, Southern Medical University, Guangzhou, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Mendelian Susceptibility to mycobacterial disease (MSMD) is a rare inherited immunodeficiency disorder characterized by increased susceptibility to atypical mycobacterial infections induced by defective IFN-γ pathway. Methods: We report three patients from a family presenting with multiple osteolytic lesions and cutaneous granulomas due to Mycobacterium marinum infections. Functional studies, including Western blotting and immunofluorescence, assessed phosphorylation and nuclear translocation of the mutant STAT1-Ile707Thr in eukaryotic overexpression systems. A luciferase reporter assay evaluated its transcriptional activity. Additionally, structural analysis using AlphaFold3 predicted the variant's functional impact. Results: A novel STAT1 variant (c.2120T>C, p.Ile707Thr) was identified. The STAT1-Ile707Thr mutant exhibited reduced phosphorylation and impaired nuclear translocation compared to wild-type STAT1. The luciferase assay confirmed decreased transcriptional activity. AlphaFold3-based cluster analysis supported a loss-of-function effect of the mutant. Discussion: This study expands the spectrum of STAT1 variants and microbial pathogens associated with MSMD.

Indexed as

Genetic Predisposition to DiseaseLoss of Function MutationMycobacterium Infections, NontuberculousSTAT1 Transcription FactorHumansMycobacterium marinumPedigreePhosphorylationSTAT1 protein, humanSTAT1 Transcription Factorgene variantloss-of functionMendelian susceptibility to mycobacterial diseaseMycobacterium marinumSTAT1

Identifiers

PMID40491431
PMCPMC12146302

What OpenQuestion holds

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LicenceCC BY
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.