JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, cilt.124, sa.6, ss.1289-1302, 2009 (SCI-Expanded)
Background: The genetic etiologies of the hyper-IgE syndromes are diverse. Approximately 60% to 70% of patients with hyper-IgE syndrome have dominant mutations in STAT3, and a single patient was reported to have a homozygous TYK2 mutation. In the remaining patients with hyper-IgE syndrome, the genetic etiology has not yet been identified.