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Case Reports
. 2013 Jul;163(1):277-9.
doi: 10.1016/j.jpeds.2013.02.040. Epub 2013 Mar 26.

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

Maysoun Al Rushood  1 , Christine McCusker, Bruce Mazer, Reza Alizadehfar, Bodo Grimbacher, Mark Depner, Moshe Ben-Shoshan
Affiliations
Case Reports

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

Maysoun Al Rushood et al. J Pediatr. 2013 Jul.

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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