Early intervention in STAT3 dominant negative disease

Signal transducer and activator of transcription 3 dominant negative (STAT3DN) disease causes an autosomal dominant hyper-IgE syndrome (AD-HIES; Job's syndrome) characterized by elevated IgE, recurrent lung and skin infections, eczematous dermatitis, mucocutaneous candidiasis, and skeletal, connective tissue, and vascular abnormalities. Since the genetic etiology identification in 2007,1,2 the diagnosis of infants with a family history of STAT3DN can be confirmed in newborns or prenatally. Although antibiotic prophylaxis targeting Staphylococcus aureus is known to decrease infectious complications in STAT3DN,3,4 the impact of early diagnosis and treatment specifically in infants with antimicrobials and antiseptics is unexamined. We retrospectively reviewed medical histories of 18 pediatric patients with STAT3DN to compare the clinical course for those with and without a family history of STAT3DN.