Chronic granulomatous disease

Last reviewed: 4 Sep 2022
Last updated: 01 Apr 2022

Summary

Definition

History and exam

Key diagnostic 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
More key diagnostic factors

Other diagnostic factors

  • fatigue
  • diarrhea
  • abdominal pain
  • cough
  • anorexia
  • arthralgias
  • nausea and vomiting
  • bloody urine
  • abnormal urinary flow
  • hepatosplenomegaly
  • family history of discoid lupus
  • oral ulcer
  • skin rash
Other diagnostic factors

Risk factors

  • family history of CGD
  • age <5 years
  • male sex
  • abnormally skewed X chromosome inactivation in X-linked carriers
  • myeloperoxidase and FCgammaRIIIb polymorphisms
More risk factors

Diagnostic investigations

1st investigations to order

  • CBC
  • ESR
  • CRP
  • fecal 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
More 1st investigations to order

Investigations to consider

  • genetic sequencing for genes encoding NADPH oxidase components
  • Western blotting
  • flow cytometric analysis of individual NADPH oxidase components
More investigations to consider

Treatment algorithm

INITIAL

active non-life-threatening infection: on first presentation

active life-threatening infection: on first presentation

ACUTE

following initial empiric treatment

ONGOING

following resolution of acute episode

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.

  • Chronic granulomatous disease images
  • Differentials

    • leukocyte adhesion deficiency type I
    • glucose-6-phosphate dehydrogenase deficiency
    • myeloperoxidase deficiency
    More Differentials
  • Guidelines

    • Practice parameter for the diagnosis and management of primary immunodeficiency
    More Guidelines
  • Patient leaflets

    Impetigo

    More Patient leaflets
  • padlock-lockedLog in or subscribe to access all of BMJ Best Practice

Use of this content is subject to our disclaimer