SHORT REPORT
Postmortem diagnosis of chronic granulomatous disease: how worthwhile is it?
1 Department of Paediatric Immunology, Newcastle upon Tyne Hospitals NHS Trust, Newcastle upon Tyne NE4 6BE, UK
2 Department of Paediatrics, Sunderland Royal Hospital, Sunderland SR4 7TP, UK
3 Department of Paediatric Respiratory Medicine, Newcastle upon Tyne Hospitals NHS Trust, Freeman Hospital, Newcastle, NE7 7DN, UK
4 Department of Paediatric Intensive Care, Newcastle upon Tyne Hospitals NHS Trust
5 Department of Clinical Microbiology, Newcastle upon Tyne Hospitals NHS Trust
6 Department of Histopathology, Newcastle upon Tyne Hospitals NHS Trust, Royal Victoria Infirmary, Newcastle, NE1 4LP, UK
7 Immunology Laboratory, Newcastle upon Tyne Hospitals NHS Trust, Royal Victoria Hospital
8 Sanquin Research at CLB and Landsteiner Laboratory of the Academic Medical Centre, University of Amsterdam, 1066 CX Amsterdam, The Netherlands
Correspondence to:
Correspondence to:
Dr M Abinun
Childrens Bone Marrow Transplantation Unit, Newcastle General Hospital, Westgate Road, Newcastle upon Tyne, NE4 6BE, UK; Mario.Abinun{at}ncl.ac.uk
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.
Abbreviations: CGD, chronic granulomatous disease
Keywords: chronic granulomatous disease; Burkholderia cepacia; palatal granulomatous mucositis; autoimmunity
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