A mutation in the STAT1 DNA-binding domain associated with hemophagocytic lymphohistocytosis
Abstract
Introduction: The transcription factor Signal Transducer and Activator of Transcription 1 (STAT1) is a key element in many of the signalling cascades involved in immune system function. Different mutations in STAT1 are associated with heterogeneous clinical phenotypes that range from early fatality due to overwhelming infection to limited involvement of the mucus membrane with recurrent Candida infections. Multiple genes related to immune function have been associated with the development of hemophagocytic lymphohistiocytosis (HLH), but the association between STAT1 mutation and HLH has not been described in detail.
Methods: We report the genetic background of a patient with chronic mucocutaneous candidiasis (CMC) as well as an unusual clinical course.
Results: In this study we describe a patient with a mutation in the STAT1 DNA-binding domain and a history of CMC who developed a refractory and fatal case of HLH despite having bone marrow transplantation.
Conclusion: We describe a patient with refractory and fatal HLH who was found to have a mutation in the DNA-binding domain of STAT1.
Statement of novelty: The association of chronic mucocutaneous candidiasis with HLH.
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Published In
LymphoSign Journal
Volume 1 • Number 2 • December 2014
Pages: 87 - 95
History
Received: 28 May 2014
Accepted: 29 May 2014
Accepted manuscript online: 24 June 2014
Version of record online: 24 June 2014
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FaitelsonYoram, BatesAndrea, ShroffManohar, GrunebaumEyal, RoifmanChaim M., and NaqviAhmed. 2014. A mutation in the STAT1 DNA-binding domain associated with hemophagocytic lymphohistocytosis. LymphoSign Journal.
1(2): 87-95. https://doi.org/10.14785/lpsn-2014-0004
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