Identification of a novel STAT3 mutation in a patient with hyper-IgE syndrome

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.

Keywords::

• Hyper-IgE syndrome
• STAT3
• primary immunodeficiency
• staphylococcal abscesses
• chronic mucocutaneous candidiasis

Declaration of interest: The authors have no financial interests to declare.