Abstract
AD HIES is characterized by recurrent severe pulmonary infections, pneumatoceles, eczema, staphylococcal abscesses, mucocutaneous candidiasis, abnormalities of bone and connective tissue and elevated serum IgE. Mutations in signal transducer and activator of transcription 3 (STAT3) have recently been found to account for most cases.
Aim: The aim of the study is to present clinical phenotype of AD HIES.
Materials and methods: A group of 22 HIES pts were genetically analyzed. The mutations in STAT3 were confirmed in 7 AD HIES pts, presented here. Recurrent and severe pulmonary infections were found in all pts except one (pt 7) at various frequency. The typical complications of pneumonias were the formation of pulmonary cyst and abscesses. Long term complications included pneumatocele and bronchopleural fistulae. In several cases lobectomy was performed. The structural abnormalities were then sites of fungal and Gram (-) infection.
Results:
Conclusions: 1. Early recognition of the HIES enables to introduce the right kind of therapy. 2. Pneumonias should be treated aggressively to try to prevent parenchymal damage. 3. If pneumatocele and bronchiectasis are present, antimicrobial prophylaxis covering Gram (-) bacteria and fungi is needed.
- © 2011 ERS