Chronic granulomatous disease as a risk factor for autoimmune disease

De Ravin, Suk See; Naumann, Nora; Cowen, Edward W.; Friend, Julia; Hilligoss, Dianne; Marquesen, Martha; Balow, James E.; Barron, Karyl S.; Turner, Maria L.; Gallin, John I.; Malech, Harry L.

doi:10.1016/j.jaci.2008.07.050

« Previous Next »The Journal of Allergy and Clinical Immunology
Volume 122, Issue 6 , Pages 1097-1103, December 2008

Chronic granulomatous disease as a risk factor for autoimmune disease

Suk See De Ravin, MD, PhD
- National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md
- Reprint requests: Suk See De Ravin, MD, PhD, Laboratory of Host Defenses, NIAID, NIH, Building 10-CRC, Room 5-3816, 10 Center Drive, Bethesda, MD 20892-1456.
Nora Naumann, MD
- National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md
Edward W. Cowen, MD, MHSc
- Dermatology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Md
Julia Friend, MPH, PA-C
- National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md
Dianne Hilligoss, RN, MSN, CRNP
- National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md
Martha Marquesen, NP
- National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md
James E. Balow, MD
- National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Md
Karyl S. Barron, MD
- National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md
Maria L. Turner, MD
- Dermatology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Md
John I. Gallin, MD
- National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md
Harry L. Malech, MD
- National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md

Received 15 May 2008; received in revised form 23 July 2008; accepted 25 July 2008. published online 26 September 2008.

Chronic granulomatous disease (CGD) is characterized by recurrent infections and granuloma formation. In addition, we have observed a number of diverse autoimmune conditions in our CGD population, suggesting that patients with CGD are at an elevated risk for development of autoimmune disorders. In this report, we describe antiphospholipid syndrome, recurrent pericardial effusion, juvenile idiopathic arthritis, IgA nephropathy, cutaneous lupus erythematosus, and autoimmune pulmonary disease in the setting of CGD. The presence and type of autoimmune disease have important treatment implications for patients with CGD.

Key words: Chronic granulomatous disease, autoimmune, antiphospholipid syndrome, IgA nephropathy, lupus, juvenile idiopathic nephropathy

Abbreviations used: ANA, Antinuclear antibody, aPL, Antiphospholipid syndrome, CGD, Chronic granulomatous disease, CT, Computed tomography, JIA, Juvenile idiopathic arthritis, LE, Lupus erythematosus, NIH, National Institutes of Health, PID, Primary immunodeficiency, RF, Rheumatoid factor