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Monogenic Etiologies of Persistent Human Papillomavirus Infections: A Comprehensive Systematic Review Publisher Pubmed



Biglari S1, 2, 3 ; Moghaddam AS4 ; Tabatabaiefar MA1 ; Sherkat R5 ; Youssefian L6 ; Saeidian AH2, 3 ; Vahidnezhad F7 ; Tsoi LC8 ; Gudjonsson JE8 ; Hakonarson H2, 3, 9 ; Casanova JL10, 11, 12, 13, 14 ; Beziat V10, 11, 12 ; Jouanguy E10, 11, 12 ; Vahidnezhad H2, 3, 9
Authors
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Authors Affiliations
  1. 1. Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
  2. 2. Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States
  3. 3. Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, United States
  4. 4. Department of Genetics, Faculty of Biological Science, North Tehran Branch, Islamic Azad University, Tehran, Iran
  5. 5. Immunodeficiency Diseases Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
  6. 6. Department of Pathology and Laboratory Medicine, UCLA Clinical Genomics Center, David Geffen School of Medicine at UCLA, Los Angeles, CA, United States
  7. 7. UCSC Silicon Valley Extension, University of California, Santa Cruz, CA, United States
  8. 8. Department of Dermatology, University of Michigan, Ann Arbor, MI, United States
  9. 9. Department of Pediatrics, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, United States
  10. 10. St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, United States
  11. 11. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France
  12. 12. Imagine Institute, Paris Cite University, France
  13. 13. Department of Pediatrics, Necker Hospital for Sick Children, EU, Paris, France
  14. 14. Howard Hughes Medical Institute, Chevy Chase, MD, United States

Source: Genetics in Medicine Published:2024


Abstract

Purpose: Persistent 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. Methods: We conducted a systematic literature review to determine the genetic, immunological, and clinical characteristics of patients with PHPVI. Results: The 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. Conclusion: PHPVI has at least 83 monogenic etiologies and a genetic diagnosis is essential for effective management. © 2023 American College of Medical Genetics and Genomics
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