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

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

L B K R Jones  1 , P McGrogan, T J Flood, A R Gennery, L Morton, A Thrasher, D Goldblatt, L Parker, A J Cant
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Special article: chronic granulomatous disease in the United Kingdom and Ireland: a comprehensive national patient-based registry

L B K R Jones et al. Clin Exp Immunol. 2008 May.

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.

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Figures

Fig. 1
Fig. 1
Factors leading to the diagnosis. PUO, pyrexia of unknown origin; GI, gastrointestinal; FHx, family history.
Fig. 2
Fig. 2
Survival figures by sex. F, femal; M, male; CI, confidence intervals.
See this image and copyright information in PMC

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