Postmortem diagnosis of chronic granulomatous disease: how worthwhile is it?. Issue 12 (25th November 2005)

• Record Type: Journal Article
• Authors: Lakshman, R; Bruce, S; Spencer, D A; Crawford, D; Galloway, A; Cooper, P N; Barge, D; Roos, D; Flood, T J; Abinun, M
• Is Part Of: Journal of clinical pathology. Volume 58:Issue 12(2005)
• Page Start: 1339
• Page End: 1341
• Publication Date: 2005-11-25
• Subjects: CGD, chronic granulomatous disease; chronic granulomatous disease -- Burkholderia cepacia -- palatal granulomatous mucositis -- autoimmunity; Pathology -- Periodicals; Pathology, Molecular -- Periodicals; 616.0705
• DOI: 10.1136/jcp.2004.025098
• Languages: English
• ISSNs: 0021-9746

Abstract

Abstract : A previously healthy 11 year old boy died unexpectedly after a rapid course of progressive pneumonia. Postmortem microbiology and histopathology suggested an underlying diagnosis of chronic granulomatous disease. This was confirmed by neutrophil oxidative burst and gene mutation analysis of other family members, one of whom benefited from early bone marrow transplantation.