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Related Experiment Video

Updated: Feb 7, 2026

Chromogenic In Situ Hybridization as a Tool for HPV-Related Head and Neck Cancer Diagnosis
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HPV: CIB1 is for EVER and EVER.

Luigi D Notarangelo1

  • 1Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD luigi.notarangelo2@nih.gov.

The Journal of Experimental Medicine
|August 3, 2018
PubMed
Summary

Bi-allelic mutations in the calcium- and integrin-binding protein 1 (CIB1) gene cause epidermodysplasia verruciformis (EV). CIB1 interacts with EVER1/2 proteins, impacting keratinocyte immune response to human β-papillomaviruses (β-HPVs).

Area of Science:

  • Genetics
  • Immunology
  • Dermatology

Background:

  • Epidermodysplasia verruciformis (EV) is a rare genetic disorder characterized by susceptibility to specific human papillomaviruses.
  • The genetic underpinnings of EV have been partially elucidated, with mutations in EVER1 and EVER2 genes identified in some cases.

Purpose of the Study:

  • To identify novel genetic causes of epidermodysplasia verruciformis.
  • To investigate the molecular mechanisms underlying CIB1's role in keratinocyte immunity.

Main Methods:

  • Genetic sequencing to identify mutations in patients with EV.
  • Co-immunoprecipitation assays to study protein interactions.
  • In vitro cell-based assays to assess immune responses.

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Main Results:

  • Bi-allelic loss-of-expression and loss-of-function mutations in the calcium- and integrin-binding protein 1 (CIB1) gene were identified as a new cause of EV.
  • CIB1 was shown to interact with EVER1 and EVER2 proteins.
  • The CIB1-EVER1/2 complex is involved in the keratinocyte-intrinsic immune response against human β-papillomaviruses (β-HPVs).

Conclusions:

  • Mutations in the CIB1 gene represent a novel genetic etiology for epidermodysplasia verruciformis.
  • CIB1 plays a crucial role in the innate immune defense of keratinocytes against β-HPVs through its interaction with the EVER1/2 complex.