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Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis

Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis REVIEW URRENT Inborn errors of human IL-17 immunity underlie PINION chronic mucocutaneous candidiasis a b c a,b Anne Puel , Sophie Cypowyj ,La´szlo´ Maro´ di , Laurent Abel , a,d a,b Capucine Picard , and Jean-Laurent Casanova Purpose of review Chronic mucocutaneous candidiasis (CMC) is characterized by recurrent or persistent symptomatic infection of the nails, skin and mucosae mostly by Candida albicans. CMC is common in patients with profound primary T-cell immunodeficiency, who often display multiple infectious and autoimmune diseases. Patients with syndromic CMC, including autosomal dominant hyper IgE syndrome (AD-HIES) and autosomal recessive autoimmune polyendocrinopathy syndrome type I (APS-I), display fewer other infections. Patients with isolated CMC (CMCD) rarely display any other severe disease. We review here recent progress in the genetic dissection of these three types of inherited CMC. Recent findings Low IL-17 T-cell proportions were reported in patients with AD-HIES bearing heterozygous STAT3 mutations, prone to CMC and staphylococcal diseases, and in a kindred with autosomal recessive CARD9 deficiency, prone to CMC and other fungal infections. High levels of neutralizing autoantibodies against IL-17 cytokines were documented in patients with APS-I presenting with CMC as their only infectious disease. The first three genetic causes of CMCD were http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Current Opinion in Allergy and Clinical Immunology Wolters Kluwer Health

Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis

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Copyright © Lippincott Williams & Wilkins. Unauthorized reproduction of this article is prohibited.
ISSN
1528-4050
eISSN
1473-6322
DOI
10.1097/ACI.0b013e328358cc0b
pmid
23026768
Publisher site
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Abstract

REVIEW URRENT Inborn errors of human IL-17 immunity underlie PINION chronic mucocutaneous candidiasis a b c a,b Anne Puel , Sophie Cypowyj ,La´szlo´ Maro´ di , Laurent Abel , a,d a,b Capucine Picard , and Jean-Laurent Casanova Purpose of review Chronic mucocutaneous candidiasis (CMC) is characterized by recurrent or persistent symptomatic infection of the nails, skin and mucosae mostly by Candida albicans. CMC is common in patients with profound primary T-cell immunodeficiency, who often display multiple infectious and autoimmune diseases. Patients with syndromic CMC, including autosomal dominant hyper IgE syndrome (AD-HIES) and autosomal recessive autoimmune polyendocrinopathy syndrome type I (APS-I), display fewer other infections. Patients with isolated CMC (CMCD) rarely display any other severe disease. We review here recent progress in the genetic dissection of these three types of inherited CMC. Recent findings Low IL-17 T-cell proportions were reported in patients with AD-HIES bearing heterozygous STAT3 mutations, prone to CMC and staphylococcal diseases, and in a kindred with autosomal recessive CARD9 deficiency, prone to CMC and other fungal infections. High levels of neutralizing autoantibodies against IL-17 cytokines were documented in patients with APS-I presenting with CMC as their only infectious disease. The first three genetic causes of CMCD were

Journal

Current Opinion in Allergy and Clinical Immunology – Wolters Kluwer Health

Published: Dec 1, 2012

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