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J Pediatr. 2013 Jul;163(1):277-9. doi: 10.1016/j.jpeds.2013.02.040. Epub 2013 Mar 26.

Autosomal dominant cases of chronic mucocutaneous candidiasis segregates with mutations of signal transducer and activator of transcription 1, but not of Toll-like receptor 3.

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  • 1Division of Pediatric Allergy and Clinical Immunology, Department of Pediatrics, McGill University Health Center, Montreal, Quebec, Canada.

Abstract

We report a family with autosomal dominant chronic mucocutaneous candidiasis as well as recurrent viral infections that segregate with a novel signal transducer and activator of transcription 1 (STAT1) mutation. Prophylactic treatment with fluconazole and immunoglobulin replacement has been initiated, with good clinical response.

Copyright © 2013 Mosby, Inc. All rights reserved.

PMID:
23541088
[PubMed - indexed for MEDLINE]
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