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Related Concept Videos

Immunodeficiency Diseases01:25

Immunodeficiency Diseases

Immunodeficiency disorders are conditions in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent. The immune system comprises a complex network of cells, tissues, and organs that work together to protect the body from potentially harmful invaders. When this system is deficient or not functioning properly, it leaves the body susceptible to infections, diseases, or other complications.
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Generation of Human Alloantigen-specific T Cells from Peripheral Blood
09:47

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Published on: November 21, 2014

EVER2 deficiency is associated with mild T-cell abnormalities.

Amandine Crequer1, Capucine Picard, Vincent Pedergnana

  • 1St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.

Journal of Clinical Immunology
|August 21, 2012
PubMed
Summary

Epidermodysplasia verruciformis (EV) is a rare skin disorder. EVER2 deficiency in EV patients shows mild T-cell abnormalities, including altered memory and skin-homing T-cell subsets, impacting immune response.

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Area of Science:

  • Immunology
  • Dermatology
  • Genetics

Background:

  • Epidermodysplasia verruciformis (EV) is a rare genodermatosis linked to betapapillomaviruses (EV-HPVs).
  • Autosomal recessive EVER1 and EVER2 gene deficiencies are implicated in most EV cases.
  • The precise mechanisms of impaired host defense against EV-HPVs in EVER-deficient individuals remain unclear.

Purpose of the Study:

  • To investigate the impact of EVER2 deficiency on T-cell development and function in adult EV patients.
  • To analyze circulating lymphocyte populations and T-cell characteristics in patients with a specific EVER2 mutation.

Main Methods:

  • Studied circulating lymphocyte populations in three adult EV patients with the T150fsX3 EVER2 mutation.
  • Assessed T-cell counts (CD4+, CD8+), proliferative capacity (anti-CD3 stimulation), T-cell subsets (memory, effector memory, skin-homing), and T-cell receptor (TCR) repertoires (Vαβ, Vγδ).

Main Results:

  • Normal counts of CD4+ and CD8+ T cells and normal proliferative capacity were observed.
  • Significant increases in memory CD4+ and effector memory CD8+ T cells were found.
  • A bias in TCR Vαβ and Vγδ repertoires and an increase in skin-homing CD4+ T-cell subsets were noted.

Conclusions:

  • EVER2-deficient EV patients exhibit mild T-cell abnormalities.
  • These abnormalities include alterations in memory and skin-homing T-cell populations.
  • The exact cause—EVER2 deficiency, chronic EV-HPV infection, or both—requires further investigation.