Clinical manifestations associated with novel mutations in the coiled-coil domain of STAT1

Publication: LymphoSign Journal
7 October 2014

Abstract

Monoallelic mutations in STAT1 are associated with a variety of clinical patterns. We studied patients with novel mutations in the coiled-coil domain of STAT1. We found that clinical manifestations can vary from mild Candida infections limited to the oropharyx to serious serial strokes and skin cancer. Autoimmune manifestations were found to be rare and limited to hypothyroidism. Immune evaluations were normal or near normal in all patients with the exception of anergy to Candida. Mutation in the coiled-coil domain results in susceptibility to mucus membrane candidiasis as well as brain vascular anomalies.
Statement of novelty: We describe novel mutations in the coiled-coil domain of STAT1.

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Information & Authors

Information

Published In

cover image LymphoSign Journal
LymphoSign Journal
Volume 1Number 2December 2014
Pages: 97 - 103

History

Received: 2 October 2014
Accepted: 7 October 2014
Accepted manuscript online: 7 October 2014

Authors

Affiliations

Department of Pediatrics A Soroka, University Medical Center, Ben Gurion University of The Negev, Beer Sheva, Israel
Ilan Dalal
Pediatric Allergy and Immunology Unit, E. Wolfson Medical Center, Holon and Tel-Aviv University, Tel-Aviv, Israel.

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Cited by

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