Chronic granulomatous disease

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Última revisão: 21 Jan 2026

Última atualização: 20 May 2025

Chronic granulomatous disease (CGD) is 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 catalase-positive organisms. The major pathogens include Staphylococcus aureus, Aspergillus species, Nocardia species, Serratia marcescens, and Burkholderia cepacia.

Infections include pneumonia, superficial and deep abscesses, lymphadenitis, and osteomyelitis.

Antibiotic and antifungal prophylaxis and early treatment of infections are imperative.

Hematopoietic stem cell transplantation should be undertaken early if human leukocyte antigen (HLA) genotypically matched donors are available.

Somatic gene therapy is effective at least transiently for restoration of NADPH oxidase activity.

Definição

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 species, Nocardia species, Serratia marcescens, and Burkholderia cepacia, as well as abnormal inflammatory responses that result in granuloma formation.[1][2]

História e exame físico

Principais fatores diagnósticos

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

Detalhes completos

Outros fatores diagnósticos

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

Detalhes completos

Fatores de risco

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

Detalhes completos

Investigações diagnósticas

Primeiras investigações a serem solicitadas

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 (NBT) test
dihydrorhodamine (DHR) 123 test

Detalhes completos

Investigações a serem consideradas

genetic sequencing for genes encoding NADPH oxidase components
Western blotting
flow cytometric analysis of individual NADPH oxidase components

Detalhes completos

Algoritmo de tratamento

Inicial

active non-life-threatening infection: on first presentation

active life-threatening infection: on first presentation

AGUDA

following initial empiric treatment

CONTÍNUA

following resolution of acute episode

Colaboradores

Autores

David Lowe, MA, MB Bchir, PhD, FRCP

Consultant Clinical Immunologist

The Royal Free Hospital

London

Declarações

DL has received personal fees from Gilead for an educational video and from Merck for a roundtable discussion. He has received speaker fees from Biotest, Takeda, and Astra-Zeneca and support to attend a conference from Octapharma. DL also holds research grants from NIHR, MRC, LifeArc, GSK, and Bristol Myers Squibb and has received consultancy fees from GSK paid to his institution.

Agradecimentos

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.

Revisores

Niraj C. Patel, MD, MS

Associate Professor of Pediatrics

Duke University

Durham

Declarações

NCP is on the Speakers Bureau for Amgen.

Andrew Gennery, MD

Reader in Paediatric Immunology & HSCT

Institute of Cellular Medicine

Medical School

Newcastle University

Newcastle-upon-Tyne

Declarações

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

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Principais artigos

Thomsen IP, Smith MA, Holland SM, et al. A comprehensive approach to the management of children and adults with chronic granulomatous disease. J Allergy Clin Immunol Pract. 2016 Nov-Dec;4(6):1082-8. Resumo

Bonilla FA, Khan DA, Ballas ZK, et al. Practice parameter for the diagnosis and management of primary immunodeficiency. J Allergy Clin Immunol. 2015 Nov;136(5):1186-205.e1-78.Texto completo Resumo

Artigos de referência

Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.

Diagnósticos diferenciais
- leukocyte adhesion deficiency type I
- glucose-6-phosphate dehydrogenase deficiency
- myeloperoxidase deficiency
Mais Diagnósticos diferenciais
Diretrizes
- Practice parameter for the diagnosis and management of primary immunodeficiency
Mais Diretrizes
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Chronic granulomatous disease

Resumo

Definição

História e exame físico

Principais fatores diagnósticos

Outros fatores diagnósticos

Fatores de risco

Investigações diagnósticas

Primeiras investigações a serem solicitadas

Investigações a serem consideradas

Algoritmo de tratamento

active non-life-threatening infection: on first presentation

active life-threatening infection: on first presentation

following initial empiric treatment

following resolution of acute episode

Colaboradores

Autores

David Lowe, MA, MB Bchir, PhD, FRCP

Declarações

Agradecimentos

Revisores

Niraj C. Patel, MD, MS

Declarações

Andrew Gennery, MD

Declarações

Créditos aos pareceristas

Declarações

Referências

Principais artigos

Artigos de referência

Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.

Diagnósticos diferenciais

Diretrizes

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