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Chronic granulomatous disease
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Chronic Granulomatous Disease

Chronic granulomatous disease is an inherited immunodeficiency disorder that leaves individuals highly vulnerable to recurrent bacterial and fungal infections and chronic tissue inflammation.

Overview

Chronic granulomatous disease is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Because the immune system cannot properly protect the body from foreign invaders, affected individuals experience recurrent bacterial and fungal infections. They also develop localized areas of inflammation called granulomas in various tissues, which can lead to tissue damage. Symptoms typically appear in childhood, though some individuals do not show signs until later in life. With treatment, most affected individuals live into mid- to late adulthood.

Frequency

Chronic granulomatous disease is estimated to affect 1 in 200,000 to 250,000 people worldwide.

Symptoms and Clinical Features

People with chronic granulomatous disease typically experience a serious bacterial or fungal infection every 3 to 4 years. Common clinical features include:

Infections

  • Lungs: The lungs are the most frequent site of infection; pneumonia is highly common. Exposure to decaying organic materials (such as mulch, hay, or dead leaves) can cause a fungal pneumonia called mulch pneumonitis, leading to fever and shortness of breath.
  • Other Areas: Frequent infections also occur in the skin, lymph nodes, and liver.

Inflammation and Granulomas

  • Gastrointestinal Tract: Granulomas commonly occur in the intestinal wall, causing a form of inflammatory bowel disease that leads to stomach pain, diarrhea, bloody stool, nausea, and vomiting. Granulomas can also cause tissue breakdown and pus production (abscesses).
  • Gastric Outlet Obstruction: Inflammation in the stomach can block food from passing into the intestines, causing vomiting after eating and subsequent weight loss.
  • Genitourinary Tract: Inflammation can affect the kidneys and bladder.
  • Immune Organs: Inflammation of the lymph nodes (lymphadenitis) and bones (osteomyelitis) can further impair immune function.

Rarely, individuals with chronic granulomatous disease may also develop autoimmune disorders, where the immune system mistakenly attacks the body's own tissues and organs.

Causes & Genetic Factors

Chronic granulomatous disease is caused by mutations in the CYBA, CYBB, NCF1, NCF2, or NCF4 gene. The condition is divided into five types based on which of these genes is mutated.

These genes provide instructions for subunits of an enzyme complex called NADPH oxidase, which is highly active in immune cells called phagocytes. Phagocytes engulf and destroy foreign invaders. Within these cells, NADPH oxidase helps produce a toxic molecule called superoxide, which is used to generate other substances that kill bacteria and fungi. NADPH oxidase is also believed to regulate the activity of neutrophils to optimize healing and reduce tissue injury.

Mutations in these genes result in either nonfunctional proteins or a complete absence of the protein. Without these subunits, the NADPH oxidase complex cannot assemble or function. This leaves phagocytes unable to kill invaders and leaves neutrophil activity unregulated, resulting in severe infections and excessive inflammation. In some individuals, the genetic cause remains unknown.

Inheritance

The inheritance pattern of chronic granulomatous disease depends on the gene involved:

  • X-linked Recessive: When caused by mutations in the CYBB gene, the condition is inherited on the X chromosome. Males (who have one X chromosome) develop the condition with one altered copy of the gene. Females (who have two X chromosomes) would need mutations in both copies to develop the disease, making it much more common in males. Fathers cannot pass X-linked traits to their sons. Rarely, female carriers with one mutated copy of the CYBB gene may experience mild symptoms, such as increased bacterial or fungal infections.
  • Autosomal Recessive: When caused by mutations in the CYBA, NCF1, NCF2, or NCF4 genes, the condition is inherited in an autosomal recessive pattern. This means both copies of the gene in each cell must have mutations. Parents of an affected individual typically carry one copy of the mutated gene but do not show symptoms. This form affects males and females equally.

Other Names for This Condition

  • Autosomal recessive chronic granulomatous disease
  • CGD
  • Granulomatous disease, chronic
  • X-linked chronic granulomatous disease

Frequently Asked Questions

CGD is diagnosed by functional tests that assess the oxidative burst of neutrophils, such as the dihydrorhodamine (DHR) flow cytometry assay or the nitroblue tetrazolium (NBT) test. Positive screening is followed by genetic sequencing to identify the specific NADPH‑oxidase subunit mutation, which guides prognosis and family counseling.
Management includes lifelong prophylactic antibiotics and antifungals, interferon‑gamma therapy to boost phagocyte function, and aggressive treatment of acute infections with intravenous antibiotics or antifungals. For selected patients, hematopoietic stem cell transplantation (HSCT) offers a potential cure, and gene‑editing trials are emerging but remain experimental.
Patients should avoid exposure to high‑risk environmental sources like mulch, decaying wood, compost, and soil that can harbor Aspergillus and other fungi. Wearing masks during gardening, using gloves, and keeping wounds clean are essential. Regular prophylactic antibiotics (e.g., trimethoprim‑sulfamethoxazole) and antifungal agents (e.g., itraconazole) are standard to prevent bacterial and fungal infections.
Rapidly worsening fever, shortness of breath, chest pain, productive cough, new skin lesions that become painful or necrotic, abdominal pain with fever, or any sudden change in mental status should prompt urgent evaluation. Because CGD patients can develop severe pneumonia or sepsis quickly, early hospital assessment is critical.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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