On Two Cases with Autosomal Dominant Hyper IgE Syndrome:Importance of Immunological Parameters forClinical Course and Follow-Up

Autosomal dominant hyper-IgE syndrome (AD-HIES) is a rare disease described in 1966. It is characterized by severe dermatitis, apeculiar face, frequent infections, extremely high levels of serum IgE and eosinophilia, all resulting from a defect in theSTAT3gene. A variety of mutations in the SH2 and DNA-binding domain have been described, and several studies have searched forassociations between the severity of the clinical symptoms, laboratory findings, and the type of genetic alteration. We present twochildren with AD-HIES–a girl with the most commonSTAT3mutation (R382W) and a boy with a rare variant (G617E) in thesame gene, previously reported in only one other patient. Herein, we discuss the clinical and immunological findings in ourpatients, focusing on their importance on disease course and management.