Abstract
Chronic granulomatous disease (CGD) is a genetically heterogeneous disease characterized by recurrent life-threatening infections with bacteria and fungi as well as dysregulated inflammatory mechanisms. CGD is caused by defects in the NADPH oxidase, the enzyme complex responsible for generation of superoxide and other reactive oxygen species (ROS) in phagocytic cells. In this review we will focus our attention on those particular inflammatory manifestations associated with CGD, their frequencies and the underlying immunologic mechanisms favoring it occurrence.
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Notes
Carneiro-Sampaio M, Chairperson, XII LAGID Meeting/I BRAGID Meeting, Autoimmunity in primary immunodeficiencies. São Paulo, August, 16–18th, 2007.
References
Segal BH, Leto TL, Gallin JI, et al. Genetic, biochemical, and clinical features of chronic granulomatous disease. Medicine (Baltimore) 2000;79:170.
Winkelstein JA, Marino MC, Johnston RB Jr, et al. Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine (Baltimore) 2000;79:155.
Marciano BE, Rosenzweig SD, Kleiner DE, et al. Gastrointestinal involvement in chronic granulomatous disease. Pediatrics 2004;114:462.
Schappi MG, Smith VV, Goldblatt D, Lindley KJ, Milla PJ. Colitis in chronic granulomatous disease. Arch Dis Child 2001;84:147–51.
Barton LL, Moussa SL, Villar RG, Hulett RL. Gastrointestinal complications of chronic granulomatous disease: case report and literature review. Clin Pediatr (Phila) 1998;37(4):231–6.
Myrup B, Valerius NH, Mortensen PB. Treatment of enteritis in chronic granulomatous disease with granulocyte colony stimulating factor. Gut 1998;42:127–30.
Walther MM, Malech HL, Berman A, et al. The urologic manifestations of chronic granulomatous disease. J Urol 1992;147:1314.
Chin TW, Stiehm ER, Faloon J, et al. Corticosteroids in treatment of obstructive lesions of chronic granulomatous disease. J Pediatr 1987;111:349.
Quie PG, Belani KK. Corticosteroids for chronic granulomatous disease. J Pediatr 1987;111:393.
Southwick FS, van der Meer JWM. Recurrent cystitis and bladder mass in two adults with chronic granulomatosis. Ann Intern Med 1988;109:118.
Goldblatt D, Butcher J, Thrasher AJ, et al. Chorioretinal lesions in patients and carriers of chronic granulomatous disease. J Pediatr 1999;134:780.
Kim SJ, Kim JG, Yu YS. Chorioretinal lesions in patients with chronic granulomatous disease. Retina 2003;23(3):360–5.
Valluri S, Chu FC, Smith ME. Ocular pathologic findings of chronic granulomatous disease of childhood. Am J Ophthalmol 1995;120(1):120–3.
Galluzzo ML, Hernandez C, Davila MTG, Pérez L, Oleastro M, Zelazko M, et al. Clinical, histopathologic and a unique spectrum of organisms significantly associated to chronic granulomatous disease osteomyelitis in childhood. Clin Infect Dis (2008), in press.
Segal BH, Davidson BA, Hutson AD, Russo TA, Holm BA, Mullan B, et al. Acid aspiration-induced lung inflammation and injury are exacerbated in NADPH oxidase-deficient mice. Am J Physiol Lung Cell Mol Physiol 2007;292(3):L760–8.
Gungor T, Halter J, Klink A, Junge S, Stumpe KD, Seger R, et al. Successful low toxicity hematopoietic stem cell transplantation for high-risk adult chronic granulomatous disease patients. Transplantation 2005;79:1596–606.
Siddiqui S, Anderson VL, Hilligoss DM, Abinun M, Kuijpers TW, Masur H, et al. Fulminant mulch pneumonitis: an emergency presentation of chronic granulomatous disease. Clin Infect Dis 2007;45:673–81.
Sillevis Smitt JH, Weening RS, Krieg SR, Bos JD. Discoid lupus erythematosus-like lesions in carriers of X-linked chronic granulomatous disease. Br J Dermatol 1990;122:643–50.
Cale CM, Morton L, Goldblatt D. Cutaneous and other lupus-like symptoms in carriers of X-linked chronic granulomatous disease: incidence and autoimmune serology. Clin Exp Immunol 2007;148:79–84.
Badolato R, Notarangelo LD, Plebani A, Roos D. Development of systemic lupus erythematosus in a young child affected with chronic granulomatous disease following withdrawal of treatment with interferon-gamma. Rheumatology (Oxford) 2003;42:804–5.
Lee BW, Yap HK. Polyarthritis resembling juvenile rheumatoid arthritis in a girl with chronic granulomatous disease. Arthritis Rheum May 1994;37:773–6.
Yamazaki-Nakashimada MA, Ramirez-Vargas N, De Rubens-Figueroa J. Chronic Granulomatous Disease Associated with Atypical Kawasaki Disease. Pediatr Cardiol (2007), in press.
Trelinski J, Chojnowski K, Kurenko-Deptuch M, Kasznicki M, Bernatowska E, Robak T. Successful treatment of refractory autoimmune thrombocytopenia with rituximab and cyclosporin A in a patient with chronic granulomatous disease. Ann Hematol 2005;84:835–6.
Sirinavin S, Techasaensiri C, Pakakasama S, Vorachit M, Pornkul R, Wacharasin R. Hemophagocytic syndrome and Burkholderia cepacia splenic microabscesses in a child with chronic granulomatous disease. Pediatr Infect Dis J 2004;23:882–4.
Bleesing JJ, Souto-Carneiro MM, Savage WJ, Brown MR, Martinez C, Yavuz S, et al. Patients with chronic granulomatous disease have a reduced peripheral blood memory B cell compartment. J Immunol 2006;176:7096–103.
Jackson SH, Devadas S, Kwon J, Pinto LA, Williams MS. T cells express a phagocyte-type NADPH oxidase that is activated after T cell receptor stimulation. Nat Immunol 2004;5:818–27.
Feldmann M, Brannan FM, Maini R. Cytokines and autoimmune disorders. Int Rev Immunol 1998;17:217–28.
Lekstrom-Himes JA, Kuhns DB, Alvord WG, Gallin JI. Inhibition of human neutrophil IL-8 production by hydrogen peroxide and dysregulation in chronic granulomatous disease. J Immunol 2005;174:411–7.
Segal BH, Kuhns DB, Ding L, Gallin JI, Holland SM. Thioglycollate peritonitis in mice lacking C5, 5-lipoxygenase, or p47(phox): complement, leukotrienes, and reactive oxidants in acute inflammation. J Leukoc Biol 2002;71(3):410–6.
Brown JR, Goldblatt D, Buddle J, Morton L, Thrasher AJ. Diminished production of anti-inflammatory mediators during neutrophil apoptosis and macrophage phagocytosis in chronic granulomatous disease (CGD). J Leukoc Biol 2003;73(5):591–9.
Kobayashi SD, Voyich JM, Braughton KR, Whitney AR, Nauseef WM, Malech HL, et al. Gene expression profiling provides insight into the pathophysiology of chronic granulomatous disease. J Immunol 2004;172:636–43.
Bylund J, Macdonald KL, Brown KL, Mydel P, Collins LV, Hancock RE, et al. Enhanced inflammatory responses of chronic granulomatous disease leukocytes involve ROS-independent activation of NF-kappa B. Eur J Immunol 2007;37:1087–96.
Acknowledgment
The author has no conflict of interests to declare. SDR’s work is supported by the National Institutes of Health, Fogarty International Center and the Fogarty International Research Collaboration Award, Grant R01TW006644.
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Rosenzweig, S.D. Inflammatory Manifestations in Chronic Granulomatous Disease (CGD). J Clin Immunol 28 (Suppl 1), 67–72 (2008). https://doi.org/10.1007/s10875-007-9160-5
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DOI: https://doi.org/10.1007/s10875-007-9160-5