Chronic granulomatous disease !

An inherited immune disorder in which white cells cannot kill certain bacteria and fungi, causing severe infections, abscesses and granulomas.

Updated 2026-11-01

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In immunology

Why it happens

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What it is

A primary immunodeficiency of phagocytes caused by a defective NADPH oxidase. Neutrophils and macrophages ingest microbes but cannot produce the reactive oxygen species needed to kill catalase-positive bacteria and fungi, leading to recurrent deep infections and granuloma formation.

Who gets it

About 1 in 200,000 to 250,000 people. Most cases are X-linked and affect boys, with symptoms usually before age 5. Latin American immunodeficiency registries report it among the commonest phagocytic defects, with frequent BCG-vaccine complications where BCG is given at birth, as in Colombia.

Causes

X-linked form: mutations in CYBB (gp91phox), about two thirds of cases
Autosomal recessive forms: mutations in NCF1, CYBA, NCF2 or NCF4
Consanguinity raises the chance of autosomal recessive forms

Risk factors

Male sex (X-linked form)
Family history of severe infections in maternal male relatives
Parental consanguinity

Pathophysiology

NADPH oxidase normally generates superoxide in the phagosome (the respiratory burst), which yields hydrogen peroxide and hypochlorous acid. Catalase-negative bacteria make their own peroxide, which the cell can use, but catalase-positive organisms (Staphylococcus aureus, Burkholderia cepacia, Serratia, Nocardia, Aspergillus) destroy it and survive. Persistent microbes and dysregulated inflammation lead to abscesses and granulomas in the lungs, liver, lymph nodes, skin, bone, bowel and urinary tract.

Classification

X-linked CGD (CYBB), more severe
Autosomal recessive CGD (NCF1, CYBA, NCF2, NCF4), often milder

Symptoms and signs

Recurrent pneumonia, including fungal pneumonia from Aspergillus
Suppurative cervical lymphadenitis
Liver abscess, a classic presentation
Skin abscesses and perianal abscesses
Osteomyelitis, often of the small bones
Granulomatous colitis resembling Crohn disease, and obstructive granulomas of the stomach outlet or urinary tract
Local or disseminated infection after BCG vaccination

Diagnosis

Clinical: Suspected in a child with recurrent deep infections or abscesses caused by catalase-positive organisms, especially liver abscess, Aspergillus pneumonia or Burkholderia infection.
Tests: Dihydrorhodamine (DHR) flow cytometry test shows absent or reduced respiratory burst; the older nitroblue tetrazolium (NBT) test stays colourless. Genetic testing defines the subtype. Cultures and biopsy of lesions identify organisms and show granulomas. Normal immunoglobulins and lymphocytes.
Imaging: Chest CT for pneumonia, nodules and fungal disease; abdominal ultrasound or CT for liver abscess; imaging of bone, bowel and urinary tract guided by symptoms.

Differential diagnosis

Leukocyte adhesion deficiency (no pus, delayed separation of the umbilical cord)
Hyper-IgE syndrome (cold staphylococcal abscesses, eczema, high IgE)
Crohn disease (when colitis predominates)
Tuberculosis or other causes of granulomatous disease

Goal of treatment

Prevent infections with lifelong prophylaxis, treat each infection early and aggressively, control granulomatous inflammation, and offer curative stem cell transplantation when appropriate.

Treatment

Medical: Lifelong antibacterial prophylaxis (trimethoprim-sulfamethoxazole) and antifungal prophylaxis (an azole such as itraconazole); interferon gamma in some centres.
Acute: Early, prolonged antimicrobial treatment directed by culture; drainage of abscesses when needed.
Procedure: Haematopoietic stem cell transplantation is curative; gene therapy is under study.
Follow-up: Close follow-up for fever and infection; avoid live bacterial vaccines (BCG) and exposure to mulch, hay, compost and building dust (sources of Aspergillus).

Drugs for this condition

Interferon gamma

Complications

Invasive aspergillosis
Liver abscess and portal hypertension
Granulomatous colitis and gastric outlet or urinary obstruction
Osteomyelitis
Chronic lung damage
Disseminated BCG infection

Prognosis

Repeated infections and inflammation shorten life expectancy, but with prophylaxis most patients live into mid to late adulthood. Stem cell transplantation can cure the disease, with good results when done before major organ damage.

Prevention

Genetic counselling and carrier testing
Delay BCG vaccination in newborns with a family history until CGD is excluded

Test yourself

Think of the answer, then tap the question to see it.

Which enzyme is defective in chronic granulomatous disease?

NADPH oxidase, which produces superoxide in the phagocyte respiratory burst.

Which type of organisms cause infections in CGD, and why?

Catalase-positive organisms (S. aureus, Aspergillus, Burkholderia, Serratia, Nocardia), because they break down their own hydrogen peroxide.

Which test is used for diagnosis?

The dihydrorhodamine (DHR) flow cytometry test; the older NBT test remains colourless.

What is the most common inheritance pattern?

X-linked recessive (CYBB mutation), affecting mainly boys.

What lifelong prophylaxis is used?

Trimethoprim-sulfamethoxazole plus an azole antifungal such as itraconazole.

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Educational information, not medical advice. For any symptom, see a health professional.

Sources: Chronic granulomatous disease: MedlinePlus Genetics (MedlinePlus, US National Library of Medicine, 2026); About Primary Immunodeficiency (PI) (Centers for Disease Control and Prevention (CDC), 2026).

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