A Novel STAT3 Mutation in a Patient with Hyper-IgE Syndrome Diagnosed with a Severe Necrotizing Pulmonary Infection

Autosomal dominant hyper-IgE syndrome (HIES) is a rare primary immune deficiency syndrome caused mainly by mutations in the signal transducer and activator of transcription 3 (STAT3) gene. More information on STAT3 mutations is still needed, and further investigation is warranted. A girl with HIES carrying a novel STAT3 mutation who had no obvious apparent symptoms but presented with a severe necrotizing pulmonary infection is described here. We analysed dynamic changes in blood cells and a series of inflammatory factors in the bronchoalveolar lavage fluid (BALF) before and after each bronchoscopic lavage to relieve her severe pulmonary abscess.