Gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation-related primary immunodeficiency is associated with disseminated mucormycosis.
case_report · Level V
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- Record sourced from PubMed, PMID 24709374.
- Also identified by DOI 10.1016/j.jaci.2014.02.037 and PMC identifier 4125455.
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Abstract
We identified a novel gain of function mutation in <i>STAT1</i> in a patient with disseminated <i>Apophysomyces trapeziformis</i> infection who had never had mucocutaneous candidiasis or autoimmunity. To our knowledge this is the first report of a genetic predisposition associated with mucormycosis.
Medical subject headings
- Immunologic Deficiency Syndromes
- Mucormycosis
- STAT1 Transcription Factor