Autosomal Dominant Cases of Chronic Mucocutaneous Candidiasis Segregates with Mutations ofSignal Transducer and Activator of Transcription 1, But Not ofToll-Like Receptor 3


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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.

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