Special article: chronic granulomatous disease in the United Kingdom and Ireland: a comprehensive national patient-based registry

Clin Exp Immunol. 2008 May;152(2):211-8. doi: 10.1111/j.1365-2249.2008.03644.x.

Abstract

There are no epidemiological studies from the British Isles of chronic granulomatous disease, characterized by recurrent, life-threatening bacterial and fungal infections and inflammatory sequelae. Patients were enrolled in a national registry and medical records were analysed. Of 94 subjects, 69 had X-linked disease, 16 had autosomal recessive disease and nine were unknown. Prevalence was 7.5/million for 1990-99 and 8.5/million for 1980-89. Suppurative adenitis, abscesses and pneumonia presented commonly. Twenty-three of 30 patients who underwent high resolution computerized tomography had chronic respiratory disease. Inflammatory sequelae included bowel stricture and urogenital tract granulomata. Growth failure was common; 75% of those measured were below the population mean. All patients received prophylactic antibiotics and 93% anti-fungal prophylaxis. Interferon gamma was used to treat infection, but rarely as prophylaxis. Despite prophylaxis, estimated survival was 88% at 10 years but 55% at age 30 years. Morbidity remains significant, severe infectious complications common. Curative treatments including stem cell transplantation should be considered for patients with frequent or serious complications.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aspergillosis / complications
  • Aspergillosis / epidemiology
  • Child
  • Child, Preschool
  • Epidemiologic Methods
  • Female
  • Granulomatous Disease, Chronic / complications
  • Granulomatous Disease, Chronic / epidemiology*
  • Humans
  • Infant
  • Infant, Newborn
  • Ireland / epidemiology
  • Male
  • Middle Aged
  • Opportunistic Infections / complications
  • Opportunistic Infections / epidemiology
  • Respiratory Tract Infections / complications
  • Respiratory Tract Infections / epidemiology
  • Staphylococcal Infections / complications
  • Staphylococcal Infections / epidemiology
  • United Kingdom / epidemiology