Evidence map›Paper›PMID 22952854›Full record

ArticlePloS one2012

Inherited MST1 deficiency underlies susceptibility to EV-HPV infections.

Amandine Crequer, Capucine Picard, Etienne Patin, Aurelia D'Amico, Avinash Abhyankar, Martine Munzer, Marianne Debré, Shen-Ying Zhang, Geneviève de Saint-Basile, Alain Fischer and 4 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 64 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
64citing papers in PubMed, 1 pooled it
6.6field-weighted citation impact, top 3% 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

64 citing papers in PubMed, 1 synthesis or guideline pooled it, 143 citations in OpenAlex.

  1. Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2024
    Pooled it
  2. Trial
  3. Review
  4. Article
  5. Article
  6. Review
  7. Review
  8. The monogenic landscape of human infectious diseases.The Journal of allergy and clinical immunology · 2025
    Review
  9. Article
  10. Article
  11. MST1/2 in inflammation and immunity.Cell adhesion & migration · 2023
    Review
  12. Review
  13. Article
  14. Article
  15. Review
  16. Article
  17. Review
  18. Article
  19. Review
  20. Review

4 more citing papers are in PubMed but not listed here.

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 7 institutions in 2 countries.

Amandine CrequerSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.
Capucine Picard
Etienne Patin
Aurelia D'Amico
Avinash Abhyankar
Martine Munzer
Marianne Debré
Shen-Ying Zhang
Geneviève de Saint-Basile
Alain Fischer
Laurent Abel
Gérard Orth
Jean-Laurent Casanova
Emmanuelle Jouanguy
Inserm · FRRockefeller University · USInstitut Pasteur · FRAssistance Publique – Hôpitaux de Paris · FRDélégation Paris 5 · FRUniversité de Reims Champagne-Ardenne · FRUniversité Paris Cité · FR

Funding

TRANSFORMING TRANSLATIONAL SCIENCE AND EDUCATION TO BENEFIT HUMAN HEALTHUL1RR024143 · NCRR · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY · 2006 to 2011
$49.1M
NCRR NIH HHS 5UL1RR024143NCRR NIH HHS UL1 RR024143
6 · The paper itself

Abstract

Epidermodysplasia verruciformis (EV) is characterized by persistent cutaneous lesions caused by a specific group of related human papillomavirus genotypes (EV-HPVs) in otherwise healthy individuals. Autosomal recessive (AR) EVER1 and EVER2 deficiencies account for two thirds of known cases of EV. AR RHOH deficiency has recently been described in two siblings with EV-HPV infections as well as other infectious and tumoral manifestations. We report here the whole-exome based discovery of AR MST1 deficiency in a 19-year-old patient with a T-cell deficiency associated with EV-HPV, bacterial and fungal infections. MST1 deficiency has recently been described in seven patients from three unrelated kindreds with profound T-cell deficiency and various viral and bacterial infections. The patient was also homozygous for a rare ERCC3 variation. Our findings broaden the clinical range of infections seen in MST1 deficiency and provide a new genetic etiology of susceptibility to EV-HPV infections. Together with the recent discovery of RHOH deficiency, they suggest that T cells are involved in the control of EV-HPVs, at least in some individuals.

Indexed as

Genetic Predisposition to DiseaseAdolescentAmino Acid SequenceAntigens, ViralBase SequenceCell ProliferationChildCodon, NonsenseEpidermodysplasia VerruciformisExomeHepatocyte Growth FactorHomozygoteHumansImmunophenotypingInfantInheritance PatternsAntigens, ViralCodon, NonsenseHepatocyte Growth Factormacrophage stimulating proteinMitogensProto-Oncogene Proteins

Identifiers

PMID22952854
PMCPMC3428299
OpenAlexW2068259856

What OpenQuestion holds

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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.