← All diseases

Blood and immune system diseases

Chronic granulomatous disease (CGD)

An inherited disease. Immune cells cannot kill germs. This is why recurrent, severe infections occur.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

Prepare an emergency card

This page is translated from the Turkish original.

This disease is followed through the “Blood and immune system diseases” group.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

In this disease, an enzyme system in the immune cells does not work. This system produces substances that kill germs. Because of this, the cells cannot kill certain bacteria and fungi. Clusters of inflammation called granulomas can also form in the body.

Which symptoms can occur?

Symptoms often begin in childhood. In some people, however, they appear later in life.

  • Repeated severe bacterial and fungal infections (common)
  • Lung infections such as pneumonia (common)
  • Infections or abscesses (pockets of pus) in the skin, liver and lymph glands (common)
  • Abdominal pain, diarrhea or bloody stools (sometimes)
  • Nausea and vomiting (sometimes)
  • Not gaining enough weight in children (sometimes)
  • Severe lung infection after contact with rotting plants or soil (sometimes)

How is it diagnosed?

Repeated severe infections raise suspicion. Special blood tests measure the ability of white blood cells to kill germs. A genetic test shows which gene is affected.

Treatment and care

To prevent infections, regular preventive medicines are taken for life. These medicines act against bacteria and fungi. A stem cell transplant can provide a lasting cure; gene therapy is being researched. With preventive treatment, most people reach adulthood. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

The most common type is passed on through the X chromosome and mostly affects males. In the other types, one changed gene from the mother and one from the father are needed; girls and boys are equally affected. If the gene change in the family is known, genetic counselling can be provided.

Source: MedlinePlus Genetics — Chronic granulomatous disease · Orphanet — Chronic granulomatous disease (ORPHA:379)

Key facts

How common is it?
Prevalence: 1-9 per 1 000 000 (Worldwide) · Birth prevalence: 1-9 per 1 000 000 (Worldwide)
When does it usually start?
Infancy, Childhood, Adolescence, Adulthood
Gene(s) involved
CYBB, NCF1, NCF2, CYBA, NCF4, CYBC1

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

We could not find a patient association specific to this disease.

For all rare diseases: Nadir Hastalıklar Federasyonu

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about CGD

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 18 active interventional studies for this disease. 7 are recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Blood and immune system diseases: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:379

No separate ICD-11 code; WHO classifies this disease under: 4A00.0Y (Other specified functional neutrophil defects)

Codes checked against WHO ICD-11 and Orphanet on October 6, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.