EVER2 Deficiency is Associated with Mild T-cell Abnormalities
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ORIGINAL RESEARCH
EVER2 Deficiency is Associated with Mild T-cell Abnormalities Amandine Crequer & Capucine Picard & Vincent Pedergnana & Annick Lim & Shen-Ying Zhang & Laurent Abel & Slawomir Majewski & Jean-Laurent Casanova & Stefania Jablonska & Gerard Orth & Emmanuelle Jouanguy
Received: 24 April 2012 / Accepted: 18 July 2012 / Published online: 19 August 2012 # Springer Science+Business Media, LLC 2012
Abstract Epidermodysplasia verruciformis (EV) is a rare genodermatosis characterized by persistent flat warts or pityriasis versicolor-like lesions caused by betapapillomaviruses (EV-HPVs). Autosomal recessive EVER1 and EVER2 deficiencies account for EV in most patients. The mechanisms by which mutations in these partners of the Zinc transporter ZnT1 impair host defense against EV-HPVs are still poorly understood. Keratinocytes of EVER-deficient
patients display an alteration of zinc homeostasis and an enhanced proliferative activity. Since EVER proteins are highly expressed in T lymphocytes, we aimed to assess the impact of EVER2 deficiency on T-cell development and function. We studied circulating lymphocyte populations in three adult EV patients sharing the same EVER2 mutation (T150fsX3). We found a normal count of CD4+ and CD8+ T cells and a normal proliferative capacity in response to anti-
Amandine Crequer and Capucine Picard contributed equally to this work. Electronic supplementary material The online version of this article (doi:10.1007/s10875-012-9749-1) contains supplementary material, which is available to authorized users. A. Crequer : S.-Y. Zhang : L. Abel : J.-L. Casanova : E. Jouanguy (*) St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA e-mail: [email protected] C. Picard : V. Pedergnana : S.-Y. Zhang : L. Abel : J.-L. Casanova : E. Jouanguy Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U980, Paris, France C. Picard Study Center of Primary Immunodeficiencies, Necker Hospital, AP-HP, Paris, France A. Crequer : C. Picard : V. Pedergnana : L. Abel : J.-L. Casanova : E. Jouanguy Paris Descartes University, Sorbonne Paris Cite, Paris, France
A. Lim Department of Immunology, Pasteur Institute, Paris, France S. Majewski Department of Dermatology and Venereology, Center of Diagnostics and Treatment of STD at Warsaw Medical University, Warsaw, Poland J.-L. Casanova Pediatric Immuno-hematology Unit, Necker Hospital, AP-HP, Paris, France S. Jablonska Department of Dermatology, Warsaw School of Medecine, Warsaw, Poland G. Orth Department of Virology, Pasteur Institute, Paris, France
J Clin Immunol (2013) 33:14–21
CD3 stimulation. However, we observed a significant increase of memory CD4+ and effector memory CD8+ T cells, a bias of the TCR Vαβ and Vγδ repertoires and an increase of skin-homing CD4+ T-cell subsets. Our findings suggest that EVER2-deficient patients display mild T-cell abnormalities. It remains unclear whether these abnormalities result from EVER deficiency, chronic EV
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