Last reviewed: 20 Sep 2021
Last updated: 28 Jun 2018



History and exam

Key diagnostic factors

  • hx of prior infections
  • SOB
  • 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
  • diarrhea
  • abdominal pain
  • cough
  • anorexia
  • arthralgias
  • nausea and vomiting
  • bloody urine
  • abnormal urinary flow
  • hepatosplenomegaly
  • FHx of discoid lupus
  • oral ulcer
  • skin rash
  • gastrointestinal symptoms

Risk factors

  • FHx of CGD
  • age <5 years
  • male gender
  • abnormally skewed X chromosome inactivation in X-linked carriers
  • myeloperoxidase and FCgammaRIIIb polymorphisms

Diagnostic investigations

1st investigations to order

  • CBC
  • ESR
  • CRP
  • CT
  • ultrasound
  • whole body PET scan with F-18 fluorodeoxyglucose (FDG)
  • colonoscopy
  • 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



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.

Peer reviewers

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

Medical School

Newcastle University




AG is an author of a reference cited in this monograph. AG declares that he has no competing interests.

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