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

作者：Al Rushood Maysoun; McCusker Christine; Mazer Bruce; Alizadehfar Reza; Grimbacher Bodo; Depner Mark; Ben Shoshan Moshe^*

来源：Journal of Pediatrics, 2013, 163(1): 277-279.

DOI：10.1016/j.jpeds.2013.02.040

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.

• 出版日期2013-7