Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism
AP Hsu, KJ Sowerwine, MG Lawrence, J Davis… - Journal of allergy and …, 2013 - Elsevier
BACKGROUND: Autosomal dominant hyper-IgE syndrome (AD-HIES) is caused by
mutations in signal transducer and activator of transcription 3 (STAT3). We describe 2
subjects in whom somatic mosaicism was associated with intermediate phenotypes.
OBJECTIVE: Somatic mosaics might shed light on the pathogenesis of dominant STAT3
mutations and the mechanisms behind the immunologic and nonimmunologic features of
the disease. METHODS: Clinical evaluations were conducted. Mutant STAT3 was amplified …
mutations in signal transducer and activator of transcription 3 (STAT3). We describe 2
subjects in whom somatic mosaicism was associated with intermediate phenotypes.
OBJECTIVE: Somatic mosaics might shed light on the pathogenesis of dominant STAT3
mutations and the mechanisms behind the immunologic and nonimmunologic features of
the disease. METHODS: Clinical evaluations were conducted. Mutant STAT3 was amplified …