Volume 10 Supplement 3

7th European Workshop on Immune-Mediated Inflammatory Diseases

Open Access

Autoimmunity and cystatin SA 1 deficiency behind chronic mucocutaneous candidiasis in autoimmune polyendocrine syndrome

  • Emma Lindh1,
  • Johan Brännström1,
  • Petra Jones1,
  • Fredrik Wermeling1,
  • Signe Hässler1,
  • Corrado Betterle2,
  • Ben Zion Garty3,
  • Mats Stridsberg4,
  • Björn Herrmann5,
  • Mikael CI Karlsson1 and
  • Ola Winqvist1
Journal of Translational Medicine201210(Suppl 3):P58

DOI: 10.1186/1479-5876-10-S3-P58

Published: 28 November 2012

Patients with the monogenic disease autoimmune polyendocrine syndrome type I (APS I) develop autoimmunity against multiple endocrine organs and suffer from chronic mucocutaneous candidiasis (CMC), a paradoxical complication with an unknown mechanism. We report that saliva from APS I patients with CMC was defective in inhibiting growth of C. albicans in vitro and had reduced levels of a salivary protein identified as cystatin SA1. In contrast, APS I patients with no CMC expressed salivary cystatin SA1 and could inhibit C. albicans to the same extent as healthy controls. We evaluated the anti-fungal activity of cystatin SA1 and found that synthesized full length cystatin SA1 efficiently inhibited growth of C. albicans in vitro. Moreover, APS I patients exhibited salivary IgA autoantibodies recognizing myosin-9, a protein expressed in the salivary glands that also produce cystatin SA1, thus linking autoimmunity to cystatin SA1 deficiency and CMC. This data suggests an autoimmune mechanism behind CMC in APS I and provide rationale for evaluating cystatin SA1 in antifungal therapy.

Authors’ Affiliations

Translational Immunology Unit, Dept. of Medicine, Karolinska Institutet
Endocrinology Unit, Dept. of Medical and Surgical Sciences, University of Padua
Dept. of Pediatrics, Schneider Children's Medical Center of Israel, Tel Aviv University
Section of Clinical Chemistry, Dept. of Medical Sciences, Uppsala University Hospital
Section of Clinical Bacteriology, Dept. of Medical Sciences, Uppsala University Hospital


© Lindh et al; licensee BioMed Central Ltd. 2012

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.