Chronic Mucocutaneous Candidiasis in Humans with Inborn Errors of Interleukin-17 Immunity

Overview

Journal Science

Specialty Science

Date 2011 Feb 26

PMID 21350122

Citations 495

Authors

Anne Puel

Sophie Cypowyj

Jacinta Bustamante

Jill F Wright

Luyan Liu

Hye Kyung Lim

Melanie Migaud

Laura Israel

Maya Chrabieh

Magali Audry

Matthew Gumbleton

Antoine Toulon

Christine Bodemer

Jamila El-Baghdadi

Matthew Whitters

Theresa Paradis

Jonathan Brooks

Mary Collins

Neil M Wolfman

Saleh Al-Muhsen

Miguel Galicchio

Laurent Abel

Capucine Picard

Jean-Laurent Casanova

Affiliations

Soon will be listed here.

Abstract

Chronic mucocutaneous candidiasis disease (CMCD) is characterized by recurrent or persistent infections of the skin, nails, and oral and genital mucosae caused by Candida albicans and, to a lesser extent, Staphylococcus aureus, in patients with no other infectious or autoimmune manifestations. We report two genetic etiologies of CMCD: autosomal recessive deficiency in the cytokine receptor, interleukin-17 receptor A (IL-17RA), and autosomal dominant deficiency of the cytokine interleukin-17F (IL-17F). IL-17RA deficiency is complete, abolishing cellular responses to IL-17A and IL-17F homo- and heterodimers. By contrast, IL-17F deficiency is partial, with mutant IL-17F-containing homo- and heterodimers displaying impaired, but not abolished, activity. These experiments of nature indicate that human IL-17A and IL-17F are essential for mucocutaneous immunity against C. albicans, but otherwise largely redundant.

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