Caused by genetic deficiency of components of nicotinamide adenine dinucleotide phosphate (NADPH) oxidase, which is necessary for effective phagocyte killing.
Results in recurrent serious bacterial and fungal infections, most commonly with Staphylococcus aureus, Aspergillus spp., Nocardia spp., Serratia marcescens, and Burkholderia cepacia.
Infections include pneumonia, superficial and deep abscesses, lymphadenitis, and osteomyelitis.
Antibiotic prophylaxis and early treatment of infections are imperative.
Haematopoietic stem cell transplantation should be undertaken early if human leucocyte antigen (HLA) genotypically matched donors are available.
Somatic gene therapy is effective at least transiently for restoration of NADPH oxidase activity.
Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by genetic defects in components of the NADPH oxidase complex. NADPH oxidase is responsible for optimal phagocyte killing through production of superoxide and regulation of ionic content within the phagosome. As a result, affected patients suffer recurrent serious bacterial and fungal infections, most commonly with Staphylococcus aureus, Aspergillus spp., Nocardia spp., Serratia marcescens, and Burkholderia cepacia, as well as abnormal inflammatory responses that result in granuloma formation.
History and exam
David Lowe, MA, MB Bchir, PhD, MRCP
Consultant Clinical Immunologist
The Royal Free Hospital
DL participated in a one-off advisory board for and received support to attend a conference from Biotest (UK).
Dr David Lowe would like to gratefully acknowledge Dr Adrian Thrasher, Dr Rebecca A. Marsh, and Dr Jack J. Bleesing, previous contributors to this monograph. AT is an author of a number of references cited in this monograph. RAM and JJB declare that they have no competing interests. Dr Rebecca A. Marsh and Dr Jack J. Bleesing wish to thank Dan Marmer, Carrie Koenig, and the Cincinnati Children's Hospital Clinical Diagnostic Immunology Lab. They also wish to thank Steven M. Holland, MD, Thomas Fleisher, MD, and Anthony Segal, MD, PhD, for helpful correspondence.
Steven M. Holland, MD
Laboratory of Clinical Infectious Diseases
National Institute of Allergy and Infectious Diseases
SMH declares that he has no competing interests.
Andrew Gennery, MD
Reader in Paediatric Immunology & HSCT
Institute of Cellular Medicine
AG is an author of a reference cited in this monograph. AG declares that he has no competing interests.
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