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.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 23541088.
- Also identified by DOI 10.1016/j.jpeds.2013.02.040.
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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.
Medical subject headings
- Candidiasis, Chronic Mucocutaneous
- Diseases in Twins
- Mutation
- STAT1 Transcription Factor