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Chronic Granulomatous Disease
(CGD; Fatal Granulomatosis of Childhood; Chronic Granulomatous Disease of Childhood; Progressive Septic Granulomatosis)
- Parents who have the recessive trait
- Sex: female
- Typically, 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|
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- Biopsy and cultures
- Blood tests
- Antibiotics—used to prevent and treat infections
- Interferon gamma —reduces the number of infections in patients; not useful in newly active infections
Bone Marrow Transplantation
Genetics Home Reference http://ghr.nlm.nih.gov
National Organization of Rare Disorders http://www.rarediseases.org
Health Canada http://www.hc-sc.gc.ca
Sick Kids http://www.sickkids.ca
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/what.php . Updated February 10, 2012. Accessed July 26, 2013.
Chronic granulomatous disease. Genetics Home Reference website. Available at: http://ghr.nlm.nih.gov/condition/chronic-granulomatous-disease . Updated August 2012. Accessed July 26, 2013.
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 July 26, 2013.
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; Michael Woods, MD
- Review Date: 07/2013
- Update Date: 05/11/2013