Autosomal dominant hyper-IgE syndrome

Th e hyper-IgE recurrent infection syndromes (HIES) comprise a group of primary immunodefi ciency dis orders that exhibit markedly elevated IgE levels, recur rent staphylococcal skin abscesses, eczema and pulmonary infections. Both autosomal dominant and autosomal recessive forms of the disorder have been described. Most autosomal dominant HIES (AD-HIES) have been found to be due to mutations in STAT3 (Signal transducer and activator of transcription 3; MIM#147060), whereas DOCK8 (Dedicator of cytokinesis 8) mutations have been identifi ed in patients with autosomal recessive HIES (AR-HIES; MIM#243700). Patients with AD-HIES also exhibit distinct dental, skeletal and connective tissue abnormalities not found in patients with AR-HIES. Th e condition is thought to be rare, although the exact prevalence is unknown; approximately 200 cases have been described in the literature. STAT3 mutations have been found in many ethnic groups with an equal gender distribution. ‘So went Satan forth from the presence of the LORD, and smote Job with sore boils from the sole of his foot unto his crown’