General Overview

Children with Chronic Granulomatous Disease (CGD) are usually healthy at birth. The features of CGD generally first appear in childhood, although some individuals do not show symptoms until later in life.

As a patient with CGD or parent of a child with CGD, it’s important to pay attention to symptoms and seek medical attention at the first sign of infection.

Although the symptoms listed below can seem daunting, the rates of cure for infections in patients with CGD are very high and are greatly improved by early diagnosis and therapy.

It is also important to note that not all patients with CGD experience all symptoms. Each patient is different. Many internal and external factors can affect the rate and severity of infections, such as type of CGD that a patient has, or whether the patient has had significant exposure to the types of bacteria and fungi that their immune systems can’t fight. For more information on the types of CGD, please click here (go to types of CGD page).

Symptoms of CGD:
  • Bone infections
  • Frequent and difficult-to-clear skin infections
    1. Abscesses
    2. Chronic infection inside the nose
    3. Furuncles
    4. Impetiginized eczema (eczema complicated by an infection)
    5. Impetigo
    6. Perianal abscesses (abscesses around the anus)
  • Joint infections
  • Persistent diarrhea
  • Pneumonia
    1. Occurs frequently
    2. Difficult to cure

Swollen lymph nodes the neck; those develop early in life, and stay swollen or occur frequently. The lymph nodes may form abscesses that require surgical drainage.1

More background on CGD symptoms and things to look out for:

Pneumonia

Individuals with CGD are susceptible to pneumonia due to the fungus Aspergillus and to some other fungi found in soil and decaying organic matter. Symptoms may come on very slowly, initially only causing fatigue, and only later causing cough or chest pain. Fungal pneumonias often do not cause fever. In contrast, bacterial infections usually come on very quickly with fever and cough. Nocardia in particular, causes high fevers and lung abscesses that can destroy parts of the lung. Chest X-rays and computerized tomography (CT) scans of the chest are very helpful. If pneumonia is seen, it is critical to determine which microbe is causing it, which may require a biopsy usually done with a needle or a bronchoscope and not surgery.

Liver Abscesses

Liver abscesses occur in about a third of patients with CGD. An abscess can present as fever and fatigue, but it may also cause mild pain over the right upper abdomen. Some sort of scan is required for diagnosis (magnetic resonance imaging or MRI, CT scan, ultrasound), and needle biopsy are necessary to determine the specific cause of the infection. Staphylococcus aureus causes most liver abscesses in patients with CGD. Often the liver abscesses are hard to drain and may need surgery. More recently, corticosteroids in combination with antimicrobials have been demonstrated to be effective in treating staphylococcal liver abscesses without surgery.2

Bowel Problems

One of the most difficult aspects of CGD is a bowel problem. About 40-50% of patients with CGD develop inflammation in the intestine that is not clearly due to a specific infection. This inflammation can be mistakenly diagnosed as Crohn’s disease, and it does look a lot like it. It also responds to most of the same treatments (antibiotics, steroids, other immune suppression drugs). Similar problems can occur in the bladder or ureters, causing problems with urination.

Bone Infection

Bone infection (osteomyelitis) can involve the hands and feet, but can also involve the spine or ribs, particularly if a fungal infection in the lungs spreads to the ribs or spine.


1 MedlinePlus [Internet]. Bethesda (MD): National Library of Medicine (US); [updated 2012 Oct 6]. Chronic Granulomatous Disease. Available from: http://www.nlm.nih.gov/medlineplus/ency/article/001239.htm

2 Leiding JW, Freeman AF, Marciano BE, et al. Corticosteroid Therapy for Liver Abscess in Chronic Granulomatous Disease. Clinical infectious diseases: an official publication of the Infectious Diseases Society of America 2011.

Source: Immune Deficiency Foundation Patient & Family Handbook for Primary Immunodeficiency Diseases FIFTH EDITION Copyright 2013 by Immune Deficiency Foundation, USA. This page contains general medical information which cannot be applied safely to any individual case. Medical knowledge and practice can change rapidly. Therefore, this page should not be used as a substitute for professional medical advice.