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Original Paper

Diagnosis and Carrier Detection of Chronic Granulomatous Disease in Five Families by Flow Cytometry

Crockard A.D.a · Thompson J.M.a · Boyd N.A.M.a · Haughton D.J.a · McCluskey D.R.b · Turner C.P.c

Author affiliations

aRegional Immunology Laboratory, Royal Victoria Hospital, and bDepartment of Medicine, Queen’s University of Belfast; cDepartment of Biochemistry, University of Bristol, UK

Related Articles for ""

Int Arch Allergy Immunol 1997;114:144–152

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: December 04, 1996
Accepted: March 20, 1997
Published online: September 04, 2009
Issue release date: 1997

Number of Print Pages: 9
Number of Figures: 0
Number of Tables: 0

ISSN: 1018-2438 (Print)
eISSN: 1423-0097 (Online)

For additional information: https://www.karger.com/IAA

Abstract

Background: The application of flow cytometric assays, for determination ofphagocyte respiratory burst (ROB) activity, to the investigation of chronic granulomatous disease (CGD) may lead to improved laboratory detection of patientsand carriers and indicate the nature of the molecular defect. To evaluate the diagnostic capability of flow cytometry an investigation of 5 CGD families was undertaken. Methods: Phorbol myristate acetate (PMA)-induced neutrophil ROBwas determined using dihydrorhodamine 123 (DHR) and flow cytometric analysis in 26 members of 5 CGD families (2: X-CGD; 3: autosomal recessive CGD).Results: Neutrophils from X-CGD patients displayed absence of reactivity. Female carriers demonstrated dual fluorescence peaks of high and low intensityindicative of normal and abnormal populations, respectively. Normal ROB activity was observed in a boy whose X-CGD was successfully treated by bone marrow transplantion. Reduced ROB activity was observed in 3 patients with autosomal-recessive CGD compared with their parents and siblings. The patterns offlow cytometric reactivity correlated with the different molecular defects identified. Absence of the p22phox membrane component of the NADPH oxidase complex resulted in a significantly reduced level of respiratory burst activity which was comparable to that observed in X-CGD, whereas reduced but detectable levels of respiratory burst activity were observed in a patient with diminished levels of p22phox and in a patient with deficiency of the cytosolic p47phox component. Conclusions: The DHR flow cytometric assay offers a sensitive diagnostic screening test for CGD and furthermore may provide an indication of the likely underlying molecular defect.

© 1997 S. Karger AG, Basel


Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: December 04, 1996
Accepted: March 20, 1997
Published online: September 04, 2009
Issue release date: 1997

Number of Print Pages: 9
Number of Figures: 0
Number of Tables: 0

ISSN: 1018-2438 (Print)
eISSN: 1423-0097 (Online)

For additional information: https://www.karger.com/IAA


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