Identification of a novel STAT3 mutation in a patient with hyper-IgE syndrome. (March 2013) - Mogensen, Trine H.
Abstract Here we describe a patient with hyper-IgE syndrome presenting with recurrent staphylococcal abscesses, pneumonia, and chronic mucocutaneous candidiasis, and report the identification of a novel STAT3 mutation at amino acid position 621, which has not previously been described. In addition, we review the immunological, infectious, and genetic features of hyper-IgE syndrome.