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A heterozygous mutation of STAT3 causes autosomal dominant hyper immunoglobulin E (IgE) syndrome; however, there are still many unclear points regarding the clinical spectrum of this syndrome. In addition to a clinical description of patients in terms of pedigree, a genetic analysis, quantitation of peripheral blood Th17 and ex vivo IL-17 production were carried out. The proband, a 2-year-old boy (Patient 1) with early onset atopic dermatitis-like eczema and recurrent bacterial infections, was suspected of autosomal dominant hyper immuno