Evidence map›Paper›PMID 37978863›Full record

SynthesisGenetics in medicine : official journal of the American College of Medical Genetics2024

Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review.

Sajjad Biglari, Atefeh Sohanforooshan Moghaddam, Mohammad Amin Tabatabaiefar, Roya Sherkat, Leila Youssefian, Amir Hossein Saeidian, Fatemeh Vahidnezhad, Lam C Tsoi, Johann E Gudjonsson, Hakon Hakonarson and 4 more

Open access · bronzeAbstract readSystematic Review
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in Genetics in medicine : official journal of the American College of Medical Genetics, 2024. 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
2.0field-weighted citation impact, top 13% 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, 8 citations in OpenAlex.

  1. Genotype-phenotype correlations and cancer risk in monogenic epidermodysplasia verruciformis.Journal of the European Academy of Dermatology and Venereology : JEADV · 2026
    Article
  2. Article
  3. Article
  4. Article
  5. Current infectious disease management challenges in inborn errors of immunity.Annals of clinical microbiology and antimicrobials · 2025
    Review
  6. 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 8 institutions in 3 countries.

Sajjad BiglariDepartment of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA.
Atefeh Sohanforooshan MoghaddamDepartment of Genetics, Faculty of Biological Science, North Tehran Branch, Islamic Azad University, Tehran, Iran.
Mohammad Amin TabatabaiefarDepartment of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Roya SherkatImmunodeficiency Diseases Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
Leila YoussefianDepartment of Pathology and Laboratory Medicine, UCLA Clinical Genomics Center, David Geffen School of Medicine at UCLA, Los Angeles, CA.
Amir Hossein SaeidianDivision of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA.
Fatemeh VahidnezhadUCSC Silicon Valley Extension, University of California, Santa Cruz, CA.
Lam C TsoiDepartment of Dermatology, University of Michigan, Ann Arbor, MI.
Johann E GudjonssonDepartment of Dermatology, University of Michigan, Ann Arbor, MI.
Hakon HakonarsonDivision of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA.
Jean-Laurent CasanovaSt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France; Imagine Institute, Paris Cité University, France; Department of Pediatrics, Necker Hospital for Sick Children, Paris, France, EU; Howard Hughes Medical Institute, Chevy Chase, MD.
Vivien BéziatSt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France; Imagine Institute, Paris Cité University, France.
Emmanuelle JouanguySt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France; Imagine Institute, Paris Cité University, France.
Hassan VahidnezhadDivision of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA. Electronic address: vahidnezhh@chop.edu.
Children's Hospital of Philadelphia · USIsfahan University of Medical Sciences · IRInserm · FRUniversity of Michigan · USHoward Hughes Medical Institute · USIslamic Azad University North Tehran Branch · IRUniversity of California, Los Angeles · USUniversity of California, Santa Cruz · US

Funding

Molecular and cellular basis of epidermodysplasia verruciformisR01AI143810 · NIAID · ROCKEFELLER UNIVERSITY · PI CASANOVA, JEAN-LAURENT, JOUANGUY, EMMANUELLE · 2020 to 2024
$2.0M
NIAID NIH HHS R01 AI143810
6 · The paper itself

Abstract

purposePersistent human papillomavirus infection (PHPVI) causes cutaneous, anogenital, and mucosal warts. Cutaneous warts include common warts, Treeman syndrome, and epidermodysplasia verruciformis, among others. Although more reports of monogenic predisposition to PHPVI have been published with the development of genomic technologies, genetic testing is rarely incorporated into clinical assessments. To encourage broader molecular testing, we compiled a list of the various monogenic etiologies of PHPVI.

methodsWe conducted a systematic literature review to determine the genetic, immunological, and clinical characteristics of patients with PHPVI.

resultsThe inclusion criteria were met by 261 of 40,687 articles. In 842 patients, 83 PHPVI-associated genes were identified, including 42, 6, and 35 genes with strong, moderate, and weak evidence for causality, respectively. Autosomal recessive inheritance predominated (69%). PHPVI onset age was 10.8 ± 8.6 years, with an interquartile range of 5 to 14 years. GATA2,IL2RG,DOCK8, CXCR4, TMC6, TMC8, and CIB1 are the most frequently reported PHPVI-associated genes with strong causality. Most genes (74 out of 83) belong to a catalog of 485 inborn errors of immunity-related genes, and 40 genes (54%) are represented in the nonsyndromic and syndromic combined immunodeficiency categories.

conclusionPHPVI has at least 83 monogenic etiologies and a genetic diagnosis is essential for effective management.

Indexed as

Epidermodysplasia VerruciformisPapillomavirus InfectionsWartsAdolescentChildChild, PreschoolGuanine Nucleotide Exchange FactorsHumansMembrane ProteinsSkinSyndromeDOCK8 protein, humanGuanine Nucleotide Exchange FactorsMembrane ProteinsTMC8 protein, humanHPVInborn errors of immunityMonogenic disorderPersistent human papillomavirus infectionRecalcitrant wart

Identifiers

PMID37978863
PMCPMC10922824
OpenAlexW4388682114

What OpenQuestion holds

Textmetadata
LicenceTDM
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.