Chronic Granulomatous Disease
(CGD; Fatal Granulomatosis of Childhood; Chronic Granulomatous Disease of Childhood; Progressive Septic Granulomatosis)
DefinitionChronic granulomatous disease is when a specific gene from both parents passes to the child. This gene causes phagocytic cells to develop abnormally in the immune system. Phagocytic cells normally kill bacteria. With this disease, these cells cannot work properly. As a result, the body cannot fight some types of bacteria. It also makes infections likely to return.CGD is a rare condition.
CausesThe disease is caused by one of 4 genes. Three of the genetic defects are recessive. This means 2 of these defective genes have to be present for the disease to develop—1 from each parent. The other gene is located on the X chromosome. It is transmitted from mother to son.
Risk FactorsCGD is more common in men.Having parents who have the recessive trait increases a child's risk of CGD.
SymptomsTypically, symptoms begin to appear in childhood. In some, they may not appear until the teen years.Symptoms include:
- Swollen lymph nodes in the neck
- Frequent skin infections that are resistant to treatment, such as:
- Persistent diarrhea
- Bone pain
- Joint pain
|Bacterial Skin Infection|
|Copyright © Nucleus Medical Media, Inc.|
DiagnosisYou will be asked about your symptoms and medical history. A physical exam will be done.You may have your bodily fluids and tissues tested. This can be done with:
- Blood tests
- Biopsy and cultures
TreatmentTalk with your doctor about the best plan for you. Treatment options include:
MedicationsYou doctor may prescribe antibiotics to prevent and treat infections.
Bone Marrow TransplantationBone marrow transplantation may be an option. A suitable donor will need to be found. It is a definitive cure.
SurgerySurgery may involve the removal of abscesses.
VaccinesSome live viral vaccines should be avoided. You should talk to your doctor before receiving one.
PreventionCGD is an inherited disease. There are no preventive steps to reduce the risk of being born with the disease. Genetic counseling may be helpful. It can be used to detect carrier status in woman. Early diagnosis is vital. It will allow for early treatment. The bone marrow transplant donor search can also be started.
Genetics Home Reference
National Organization for Rare Disorders
Sick Kids—The Hospital for Sick Children
Bernhisel-Broadbent J, Camargo EE, Jaffe HS, et al. Recombinant human interferon-gamma as adjunct therapy for Aspergillus infection in a patient with chronic granulomatous disease. J Infect Dis. 1991;163(4):908-911.
Chronic granulomatous disease. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed. Updated May 2, 2014. Accessed December 16, 2014.
Chronic granulomatous disease. Genetics Home Reference website. Available at: http://ghr.nlm.nih.gov/condition/chronic-granulomatous-disease. Updated August 2012. Accessed December 16, 2014.
Chronic granulomatous disease and other phagocytic cell disorders. Immune Deficiency Foundation website. Available at: http://primaryimmune.org/about-primary-immunodeficiencies/specific-disease-types/chronic-granulomatous-disease-and-other-phagocytic-cell-disorders/. Accessed December 16, 2014.
Dinauer MC, Lekstrom-Himes JA, Dale DC. Inherited Neutrophil Disorders: Molecular Basis and New Therapies. Hematology. 2000;303.
Lekstrom-Himes JA, Gallin JI. Immunodeficiency diseases caused by defects in phagocytes. N Engl J Med. 2000; 343:1703.
Pogrebniak HW, Gallin JI, Malech HL. Surgical management of pulmonary infections in chronic granulomatous disease of childhood. Ann Thorac Surg. 1993;55(4):844-849.
- Reviewer: Kari Kassir, MD
- Review Date: 12/2014
- Update Date: 12/20/2014
Many medical groups felt that early exposure to certain foods like peanuts increased a child's risk of developing food allergies. However, newer research including this trial suggest that early exposure may actually decrease the risk of developing food allergies.
Breastfeeding May Decrease the Risk of Childhood Obesity
Tonsillectomy May Reduce Number of Sore Throat Days in Children
Research Review Finds Little Support for Nearly Half of Medical Talk Show Recommendations