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Autoimmune Diseases
Volume 2010, Article ID 127692, 5 pages
http://dx.doi.org/10.4061/2010/127692
Research Article

Detection of Mycobacterium avium ss. Paratuberculosis in Blau Syndrome Tissues

1Department of Ophthalmology and Visual Sciences, University of Wisconsin, Madison, 600 Highland Avenue, Madison, WI 53792, USA
2Chippewa Valley Eye Clinic, 2715 Damon Street, Eau Claire, WI 54701, USA
3Kwik Trip Inc., 2302 Kwik Trip Way, La Crosse, WI 54602, USA

Received 2 January 2010; Revised 1 May 2010; Accepted 11 May 2010

Academic Editor: Edmond J. Yunis

Copyright © 2010 C. Thomas Dow and Jay L. E. Ellingson. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Background and Aim of the Work. Blau syndrome is an inherited granulomatous inflammatory disorder with clinical findings of uveitis, arthritis, and dermatitis. Although rare, Blau syndrome shares features with the more common diseases sarcoidosis and Crohn's disease. The clinical findings of Blau syndrome are indistinguishable from juvenile sarcoidosis; the mutations of Blau syndrome are on the same gene of chromosome 16 (CARD15) that confers susceptibility to Crohn's disease. The product of this gene is part of the innate immune system. Mycobacterium avium ss. paratuberculosis (MAP) is the putative cause of Crohn's disease and has been implicated as a causative agent of sarcoidosis. Methods. Archival tissues of individuals with Blau syndrome were tested for the presence of MAP. Results. DNA evidence of MAP was detected in all of the tissues. Conclusions. This article finds that MAP is present in Blau syndrome tissue and postulates that it has a causal role. The presence of MAP in Blau syndrome—an autosomal dominant, systemic inflammatory disease—connects genetic and environmental aspects of “autoimmune” disease.