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

• Published in: Clinical and experimental immunology Vol. 152; no. 2; pp. 211 - 218
• Main Authors: Jones, L.B.K.R, McGrogan, P, Flood, T.J, Gennery, A.R, Morton, L, Thrasher, A, Goldblatt, D, Parker, L, Cant, A.J
• Format: Journal Article
• Language: English
• Published: Oxford, UK Oxford, UK : Blackwell Publishing Ltd 01.05.2008; Blackwell Publishing Ltd; Blackwell; Blackwell Science Inc
• Subjects: Adolescent; Adult; Analytical, structural and metabolic biochemistry; Aspergillosis - complications; Aspergillosis - epidemiology; Aspergillus infection; Biological and medical sciences; Child; Child, Preschool; chronic granulomatous disease; colitis; Epidemiologic Methods; Female; Fundamental and applied biological sciences. Psychology; Granulomatous Disease, Chronic - complications; Granulomatous Disease, Chronic - epidemiology; Hematologic and hematopoietic diseases; Humans; Immunodeficiencies; Immunodeficiencies. Immunoglobulinopathies; Immunopathology; Infant; Infant, Newborn; Ireland - epidemiology; Male; Medical sciences; Middle Aged; Opportunistic Infections - complications; Opportunistic Infections - epidemiology; Other diseases. Hematologic involvement in other diseases; pneumonia; Respiratory Tract Infections - complications; Respiratory Tract Infections - epidemiology; Special; Staphylococcal infection; Staphylococcal Infections - complications; Staphylococcal Infections - epidemiology; United Kingdom - epidemiology; United Kingdom; Europe; Ireland; Human; Immunopathology; Lung disease; Chronic granulomatous disease; Pneumonia; Aspergillus infection; Respiratory disease; Hemopathy; Biochemistry; Immune deficiency; Genetic disease; Fungi; Infection; Aspergillus; Bacteriosis; Digestive diseases; Intestinal disease; Fungi Imperfecti; Colitis; Staphylococcal infection; Leukocyte disease
• ISSN: 0009-9104; 1365-2249
• DOI: 10.1111/j.1365-2249.2008.03644.x

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.