Evidence map›Paper›PMID 34987506›Full record

ArticleFrontiers in immunology2021

Case Report: A New Gain-of-Function Mutation of

Martin Martinot, Anne Sophie Korganow, Mathieu Wald, Julie Second, Elodie Birckel, Antoine Mahé, Laurent Souply, Mahsa Mohseni-Zadeh, Laure Droy, Julien Tarabeux and 4 more

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in immunology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.1field-weighted citation impact, top 24% of its field
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

7 citing papers in PubMed, 18 citations in OpenAlex.

  1. Advances in the pathogenesis of rosacea.Frontiers in immunology · 2025
    Review
  2. Article
  3. Review
  4. Review
  5. Chronic Mucocutaneous Candidiasis: A Case Report.Clinical, cosmetic and investigational dermatology · 2023
    Article
  6. Human follicular mites: Ectoparasites becoming symbionts.Molecular biology and evolution · 2022
    Article
  7. Article
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

14 authors at 6 institutions in 3 countries.

Martin MartinotInfectious Diseases Department, Hôpitaux Civils de Colmar, Colmar, France.
Anne Sophie KorganowDepartment of Clinical Immunology and Internal Medicine, National Reference Center for Systemic Autoimmune Diseases (CNR RESO), Tertiary Center for Primary Immunodeficiency, Strasbourg University Hospital, Strasbourg, France.
Mathieu WaldInfectious Diseases Department, Hôpitaux Civils de Colmar, Colmar, France.
Julie SecondDermatology Department, Hôpitaux Civils de Colmar, Colmar, France.
Elodie BirckelDermatology Department, Hôpitaux Civils de Colmar, Colmar, France.
Antoine MahéDermatology Department, Hôpitaux Civils de Colmar, Colmar, France.
Laurent SouplyMicrobiology Department, Hôpitaux Civils de Colmar, Colmar, France.
Mahsa Mohseni-ZadehInfectious Diseases Department, Hôpitaux Civils de Colmar, Colmar, France.
Laure DroyPathology Department, Hôpitaux Civils de Colmar, Colmar, France.
Julien TarabeuxGenetic Diagnostic Laboratory, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Satoshi OkadaLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, UMR 1163, University of Paris, Paris, France.
Mélanie MigaudDepartment of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.
Anne PuelLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, UMR 1163, University of Paris, Paris, France.
Aurelien GuffroyDepartment of Clinical Immunology and Internal Medicine, National Reference Center for Systemic Autoimmune Diseases (CNR RESO), Tertiary Center for Primary Immunodeficiency, Strasbourg University Hospital, Strasbourg, France.
Hopitaux Civils de Colmar · FRUniversité de Strasbourg · FRHiroshima University · JPHôpitaux Universitaires de Strasbourg · FRInserm · FRUniversité Paris Cité · FR

Funding

Genome-wide search for inborn errors of IL-17 immunity underlying chronic mucocutaneous candidiasisR01AI127564 · NIAID · UT SOUTHWESTERN MEDICAL CENTER · PI Jean-Laurent Casanova, Anne Puel · 2017 to 2026
$4.8M
NIAID NIH HHS R01 AI127564
6 · The paper itself

Abstract

Purpose: Heterozygous missense Methods: Genetic analysis Results: NGS identified a novel variant of Conclusion: We describe a new

Indexed as

AdultCandidiasis, Chronic MucocutaneousFemaleGain of Function MutationHumansMite InfestationsRosaceaSkinSTAT1 Transcription FactorSTAT1 protein, humanSTAT1 Transcription FactorDemodexdemodicosisIL-17inborn error of immunitymutationrosacearosacea-like demodicosisSTAT1 GOF

Identifiers

PMID34987506
PMCPMC8721043
OpenAlexW4200273318

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.