Publications

Abstract

Autosomal-dominant hyper-IgE syndrome (AD-HIES) is a rare multisystemic primary immunodeficiency disorder characterized by recurrent mucocutaneous candidiasis, Staphylococcal abscesses, pneumonia, and extremely high levels of IgE.1 It is caused by heterozygous loss-of-function mutations in the gene encoding the transcription factor signal transducer and activator of transcription 3 (STAT3). STAT3 acts downstream of many cytokine receptors key to lymphocyte function including those for IL-6, IL-10, and IL-21 and has emerged as a key regulator of multiple lymphocyte lineages including CD4 and CD8 T cells.1