ArticleJournal of clinical immunology2025
A Child with Chronic Mucocutaneous Candidiasis Harbors a Novel Gain-of-Function Mutation in STAT1.
Article in Journal of clinical immunology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled 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.
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.
Who cites it
2 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- Evolution of Inborn Errors of Immunity in China: Discoveries and Treatment Paradigms.Clinical reviews in allergy & immunology · 2026Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors.
Funding
Abstract
objectiveGermline heterozygous gain-of-function (GOF) mutations in STAT1 impair IL-17-mediated immunity, resulting in carriers' susceptibility to chronic mucocutaneous candidiasis (CMC). JAK inhibitors have shown therapeutic effectiveness in patients with STAT1-GOF mutations.
methodsThe mutation was detected using whole-exome sequencing (WES) and confirmed by Sanger sequencing. The functional impact of the mutation was verified by luciferase reporter assay. The phosphorylation level of STAT1 in patient cells, the phenotyping of leukocyte subtypes, and serum cytokine levels were determined by flow cytometry.
resultsThe patient with CMC harbors a heterozygous missense mutation in STAT1 (c.1078G > C, p.V360L). This mutation was functionally validated as a GOF mutation based on functional analysis of the variant and enhanced phosphorylation upon IFN-γ stimulation in the patient's cells. Additionally, the patient demonstrated a decreased proportion of CD4 + T cells, NK cells, and Th17 cells. Flow cytometry analysis revealed a significant decrease in the expression of IL-17 A in CD4 + T cells from the patient. Serological test results showed that the patient's IgM level was decreased, while the levels of IL-2, IL-5, IL-6 and TNF-α were elevated. Topical application of ruxolitinib demonstrated therapeutic efficacy.
conclusionsThe present study reports a pediatric patient with CMC who carries a novel GOF mutation in STAT1. This mutation may impair IL-17 immunity, which could potentially increase the patient's susceptibility to CMC. However, further research is needed to elucidate the underlying mechanism. Although ruxolitinib shows potential as a therapeutic option for CMC, its clinical efficacy requires further validation through experimental studies and long-term patient follow-up.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.