Summary
Definition
History and exam
Key diagnostic factors
- presence of risk factors
- history of prior infections
- shortness of breath
- perianal pain
- flank pain
- red skin lesion
- abnormal chest examination
- rigors
- fever
- chronic lymphadenopathy
- poor growth
- joint pain
- facial pain
- chorioretinal lesions
- skin scarring
Other diagnostic factors
- fatigue
- diarrhoea
- abdominal pain
- cough
- anorexia
- arthralgias
- nausea and vomiting
- bloody urine
- abnormal urinary flow
- hepatosplenomegaly
- family history of discoid lupus
- oral ulcer
- skin rash
Risk factors
- family history of CGD
- age <5 years
- male sex
- abnormally skewed X chromosome inactivation in X-linked carriers
- myeloperoxidase and FCgammaRIIIb polymorphisms
Diagnostic investigations
1st investigations to order
- FBC
- ESR
- CRP
- faecal calprotectin
- CT chest
- CT or ultrasound for active infection
- whole body PET scan with F-18 fluorodeoxyglucose (FDG)
- MRI scan
- colonoscopy
- pulmonary function tests
- nitroblue tetrazolium test (NBT)
- dihydrorhodamine (DHR) 123 test
Investigations to consider
- genetic sequencing for genes encoding NADPH oxidase components
- Western blotting
- flow cytometric analysis of individual NADPH oxidase components
Treatment algorithm
Contributors
Authors
David Lowe, MA, MB Bchir, PhD, FRCP
Consultant Clinical Immunologist
The Royal Free Hospital
London
UK
Disclosures
DL has received travel and subsistence costs for consultancy work from CSL Behring and has participated in an advisory board for Merck.
Acknowledgements
Dr David Lowe would like to gratefully acknowledge Dr Adrian Thrasher, Dr Rebecca A. Marsh, and Dr Jack J. Bleesing, previous contributors to this topic. AT is an author of a number of references cited in this topic. 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.
Peer reviewers
Steven M. Holland, MD
Laboratory of Clinical Infectious Diseases
National Institute of Allergy and Infectious Diseases
NIH
Bethesda
MD
Disclosures
SMH declares that he has no competing interests.
Andrew Gennery, MD
Reader in Paediatric Immunology & HSCT
Institute of Cellular Medicine
Medical School
Newcastle University
Newcastle-upon-Tyne
UK
Disclosures
AG is an author of a reference cited in this topic. AG declares that he has no competing interests.
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