Signal Transducer and Activator of Transcription 3 (STAT3) Gene Mutations in Two Patients with Hyperimmunoglobulin E Syndrome

摘要

The autosomal dominant (AD) hyperimmunoglobulin E syndrome (HIES, Job syndrome) is a primary immunodeficiency with multiple systemic involvements. It is characterised by grossly raised serum immunoglobulin E (IgE) level with recurrent cutaneous and pulmonary infections, eczema, pneumatocoeles, dental and musculoskeletal problems. The occurrence of the classic triads, namely recurrent cold abscesses, pneumatocoele formation and raised serum immunoglobulin E should alert the clinicians on the diagnosis of HIES. Mutations in the signal transducer and activator of transcription 3 (STAT3) gene have been identified recently to be the cause of AD HIES. We report 3 patients with HIES, in whom 2 were found to have STAT3 gene mutations.