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

PURPOSE

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.

PATIENTS AND METHODS

Whole-exome sequencing and Sanger sequencing were used to identify novel STAT3 mutations. Flow cytometry was used for immune analysis of Th17 cells and inflammatory cytokines.

RESULTS

A novel de novo mutation in STAT3 (c.1552C>T, p.Arg518*) was identified in this patient. The number of eosinophils decreased after each bronchoscopy procedure. Elevated interleukin (IL)-8 and IL-1β levels were detected in her right lung BALF in the acute phase, but they were reduced after four bronchoscopic lavage procedures and the administration of antimicrobial medicine.

CONCLUSION

More information on STAT3 mutations is needed to investigate the relationship between the genotype and HIES phenotype. Bronchoscopic lavages are recommended instead of surgery to relieve acute severe pulmonary abscesses and necrotizing pulmonary infections in paediatric patients with HIES.