Evidence map›Paper›PMID 31484767›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2019

Homozygous

Scott B Drutman, Filomeen Haerynck, Franklin L Zhong, David Hum, Nicholas J Hernandez, Serkan Belkaya, Franck Rapaport, Sarah Jill de Jong, David Creytens, Simon J Tavernier and 13 more

Open access · bronzeAbstract readCase Reports
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 71 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
71citing papers in PubMed, 2 pooled it
12.7field-weighted citation impact, top 1% 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

71 citing papers in PubMed, 2 syntheses or guidelines pooled it, 131 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. Pooled it
  3. Review
  4. Review
  5. Review
  6. Article
  7. Article
  8. Review
  9. IL-1 family cytokines in inflammation and immunity.Cellular & molecular immunology · 2025
    Review
  10. Article
  11. Article
  12. Review
  13. Article
  14. Review
  15. Sterile activation of RNA-sensing pathways in autoimmunity.Journal of molecular cell biology · 2024
    Review
  16. Article
  17. Review
  18. NLRP inflammasomes in health and disease.Molecular biomedicine · 2024
    Review
  19. Review
  20. Article

11 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

23 authors at 9 institutions in 6 countries.

Scott B DrutmanSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065.
Filomeen HaerynckPrimary Immune Deficiency Research Laboratory, Department of Internal Diseases and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, 9000 Ghent, Belgium.
Franklin L ZhongInstitute of Molecular and Cell Biology, A*STAR, 138673 Proteos, Singapore.
David HumSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065.
Nicholas J HernandezSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065.
Serkan BelkayaSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065.
Franck RapaportSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065.
Sarah Jill de JongSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065.
David CreytensDepartment of Pathology, Ghent University Hospital, 9000 Ghent, Belgium.
Simon J TavernierPrimary Immune Deficiency Research Laboratory, Department of Internal Diseases and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, 9000 Ghent, Belgium.
Katrien BonteDepartment of Otorhinolaryngology, Head and Neck Surgery, Craniofacial Team, Gent University Hospital, 9000 Ghent, Belgium.
Sofie De SchepperDepartment of Dermatology, Ghent University Hospital, 9000 Ghent, Belgium.
Jutte van der Werff Ten BoschDepartment of Pediatrics, Universitair Ziekenhuis Brussel, 1090 Jette, Belgium.
Lazaro Lorenzo-DiazLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.
Andy WullaertDepartment of Biomedical Molecular Biology, Ghent University, 9000 Ghent, Belgium.
Xavier BossuytDepartment of Microbiology and Immunology, KU Leuven, 3000 Leuven, Belgium.
Gérard OrthDepartment of Virology, Pasteur Institute, 75015 Paris, France.
Vincent R BonaguraCenter for Immunology and Inflammation, The Feinstein Institutes for Medical Research, Manhasset, NY 11030.
Vivien BéziatSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065.ORCID 0000-0002-4020-824X
Laurent AbelSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065.
Emmanuelle JouanguySt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065.
Bruno ReversadeInstitute of Molecular and Cell Biology, A*STAR, 138673 Proteos, Singapore.
Jean-Laurent CasanovaSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065; casanova@rockefeller.edu.
Rockefeller University · USGhent University Hospital · BEInserm · FRAgency for Science, Technology and Research · SGFeinstein Institute for Medical Research · USInstitut Pasteur · FRKU Leuven · BEUniversitair Ziekenhuis Brussel · BEVlaams Instituut voor Biotechnologie · BE

Funding

Developing, Demonstrating, and Disseminating Innovative Programs to Achieve Translational SuccessUL1TR001866 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY, KRUEGER, JAMES G · 2016 to 2025
$40.6M
Genetics and Cell BiologyT32GM066699 · NIGMS · ROCKEFELLER UNIVERSITY · PI STRICKLAND, SIDNEY · 2004 to 2021
$7.6M
HPV-Specific, Immune Suppression in Patients with RRPR01DE017227 · NIDCR · FEINSTEIN INSTITUTE FOR MEDICAL RESEARCH · PI BONAGURA, VINCENT ROBERT · 2006 to 2017
$4.5M
Reprogramming Host Immune Responses to Cure or Control Persistent HPV InfectionR21AI105987 · NIAID · FEINSTEIN INSTITUTE FOR MEDICAL RESEARCH · PI BONAGURA, VINCENT ROBERT · 2013 to 2014
$589k
Molecular genetic dissection of epidermodysplasia verruciformisR21AI107508 · NIAID · ROCKEFELLER UNIVERSITY · PI JOUANGUY, EMMANUELLE · 2014 to 2015
$466k
NCATS NIH HHS UL1 TR001866NIAID NIH HHS R21 AI105987NIAID NIH HHS R21 AI107508NIDCR NIH HHS R01 DE017227NIGMS NIH HHS T32 GM066699
6 · The paper itself

Abstract

Juvenile-onset recurrent respiratory papillomatosis (JRRP) is a rare and debilitating childhood disease that presents with recurrent growth of papillomas in the upper airway. Two common human papillomaviruses (HPVs), HPV-6 and -11, are implicated in most cases, but it is still not understood why only a small proportion of children develop JRRP following exposure to these common viruses. We report 2 siblings with a syndromic form of JRRP associated with mild dermatologic abnormalities. Whole-exome sequencing of the patients revealed a private homozygous mutation in

Indexed as

Gain of Function MutationHomozygoteAdaptor Proteins, Signal TransducingApoptosis Regulatory ProteinsChild, PreschoolCytokinesFemaleHumansInfantInflammasomesKeratinocytesMaleNLR ProteinsPapillomavirus InfectionsPedigreeRespiratory Tract InfectionsAdaptor Proteins, Signal TransducingApoptosis Regulatory ProteinsCytokinesInflammasomesNLRP1 protein, humanNLR Proteinsgeneticshuman papillomavirusinflammasomeNLRP1recurrent respiratory papillomatosis

Identifiers

PMID31484767
PMCPMC6754618
OpenAlexW2971719757

What OpenQuestion holds

Textmetadata
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.