An unusual cause of granulomatous disease
1 Department of Immunology, Royal Victoria Infirmary, Newcastle-Upon-Tyne, UK
2 Department of Microbiology, Royal Victoria Infirmary, Newcastle-Upon-Tyne, UK
3 Molecular Immunology, Great Ormond Street Hospital, London, UK
4 Department of Respiratory Medicine, Freeman Hospital, Newcastle-Upon-Tyne, UK
5 Regional Liver Unit, Freeman Hospital, Newcastle-Upon-Tyne, UK
BMC Clinical Pathology 2007, 7:1 doi:10.1186/1472-6890-7-1Published: 2 March 2007
Chronic granulomatous disease (CGD) is an inherited disorder of phagocytic cells caused by an inability to generate active microbicidal oxygen species required kill certain types of fungi and bacteria. This leads to recurrent life-threatening bacterial and fungal infections with tissue granuloma formation.
We describe a case of X-linked Chronic granulomatous disease (CGD) diagnosed in an 18-year-old male. He initially presented with granulomatous disease mimicking sarcoidosis and was treated with corticosteroids. He subsequently developed Burkholderia cepacia complex pneumonia and further investigation confirmed a diagnosis of CGD.
Milder phenotypes of CGD are now being recognised. CGD should be considered in patients of any age with granulomatous diseases, especially if there is a history of recurrent or atypical infection.