Investigating Health Status and Quality of Life in Patients with STAT3-DN-HIES

Christo Tsilifis, Andrew R Gennery

Study Background:

Dominant negative mutations in signal transduction and activator of transcription 3 (STAT3) confer a multisystem immunodeficiency syndrome with recurrent staphylococcal pneumonia, eczema, and cutaneous abscess formation in patients with elevated IgE levels (STAT3-HIES). Whilst national registry studies have expanded understanding of the genotype and phenotype of this disease to include connective tissue disease and vasculopathy, description of the health status of this patient group has been limited by its rarity and similarity to other inborn errors of immunity, and there is little understanding of the impact of this disease on quality of life (QOL). Read More