title: Clinical features of chronic granulomatous disease: a series of 26 patients from a single center.
abstract: Chronic granulomatous disease is a genetically determined immunodeficiency disorder affecting phagocytic cells rendering them unable to kill certain bacteria and fungi. The present study is a single-center retrospective study that aimed to document the clinical course of 26 children, with a median age of 2.5 years, from 21 families diagnosed as chronic granulomatous disease from 1989-2008. A median delay of 39 months was observed between the onset of infections and age at diagnosis. Pneumonia was the most common initial manifestation of the disease followed by lymphadenitis, skin abscess and diarrhea. An AR inheritance was predominant in the study group. All patients received antibacterial and antifungal prophylaxis, resulting in a marked decrease in the incidence of infections. Overall mortality was 19.2%. These results showed that all features in our group (clinical, progression and outcome) were similar to the literature except for the predominance of autosomal recessive form.
authors.affiliation: Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: Tuba
authors.initials: T
authors.lastname: Turul-Ozgür
authors.forename: Gülten
authors.initials: G
authors.lastname: Türkkani-Asal
authors.forename: Ilhan
authors.initials: I
authors.lastname: Tezcan
authors.forename: M Yavuz
authors.initials: MY
authors.lastname: Köker
authors.forename: Ayşe
authors.initials: A
authors.lastname: Metin
authors.forename: Leman
authors.initials: L
authors.lastname: Yel
authors.forename: Fügen
authors.initials: F
authors.lastname: Ersoy
authors.forename: Ozden
authors.initials: O
authors.lastname: Sanal
mesh_terms: D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D018450:Disease Progression; D005260:Female; D005838:Genotype; D006105:Granulomatous Disease, Chronic / Q000175:diagnosis* / Q000188:drug therapy; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D012189:Retrospective Studies