Noninfectious Manifestations and Complications of Chronic Granulomatous Disease

Journal of the Pediatric Infectious Diseases Society - Tập 7 Số suppl_1 - Trang S18-S24 - 2018
Sarah E. Henrickson1, Artemio M. Jongco2,3, Kelly Thomsen4, Elizabeth Garabedian5, Isaac Thomsen6
1Division of Allergy and Immunology, Department of Pediatrics, Children’s Hospital of Philadelphia, Pennsylvania
2Departments of Medicine and Pediatrics, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Great Neck, New York
3Institute for Immunology, University of Pennsylvania, Philadelphia
4Division of Gastroenterology, Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee
5National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland;
6Division of Pediatric Infectious Diseases, Vanderbilt University School of Medicine, Nashville, Tennessee

Tóm tắt

Từ khóa


Tài liệu tham khảo

Etzioni, 2003, Immune deficiency and autoimmunity, Autoimmun Rev, 2, 364, 10.1016/S1568-9972(03)00052-1

De Ravin, 2008, Chronic granulomatous disease as a risk factor for autoimmune disease, J Allergy Clin Immunol, 122, 1097, 10.1016/j.jaci.2008.07.050

Schäppi, 2001, Colitis in chronic granulomatous disease, Arch Dis Child, 84, 147, 10.1136/adc.84.2.147

Marciano, 2004, Gastrointestinal involvement in chronic granulomatous disease, Pediatrics, 114, 462, 10.1542/peds.114.2.462

Alimchandani, 2013, Gastrointestinal histopathology in chronic granulomatous disease: a study of 87 patients, Am J Surg Pathol, 37, 1365, 10.1097/PAS.0b013e318297427d

Kang, 2009, Advances in treatment for chronic granulomatous disease, Immunol Res, 43, 77, 10.1007/s12026-008-8051-z

Winkelstein, 2000, Chronic granulomatous disease. Report on a national registry of 368 patients, Medicine (Baltimore), 79, 155, 10.1097/00005792-200005000-00003

Khangura, 2016, Gastrointestinal features of chronic granulomatous disease found during endoscopy, Clin Gastroenterol Hepatol, 14, 395, 10.1016/j.cgh.2015.10.030

Liu, 2009, CD68 expression is markedly different in Crohn’s disease and the colitis associated with chronic granulomatous disease, Inflamm Bowel Dis, 15, 1213, 10.1002/ibd.20890

Uzel, 2010, Complications of tumor necrosis factor-α blockade in chronic granulomatous disease-related colitis, Clin Infect Dis, 51, 1429, 10.1086/657308

Vinh, Mucormycosis in chronic granulomatous disease: association with iatrogenic immunosuppression. J Allergy Clin Immunol 2009;123:1411-3

Seger, 2010, Hematopoietic stem cell transplantation for chronic granulomatous disease, Immunol Allergy Clin North Am, 30, 195, 10.1016/j.iac.2010.01.003

Martire, 2008, Clinical features, long-term follow-up and outcome of a large cohort of patients with chronic granulomatous disease: an Italian multicenter study, Clin Immunol, 126, 155, 10.1016/j.clim.2007.09.008

Jones, 2008, Special article: chronic granulomatous disease in the United Kingdom and Ireland: a comprehensive national patient-based registry, Clin Exp Immunol, 152, 211, 10.1111/j.1365-2249.2008.03644.x

van den Berg, 2009, Chronic granulomatous disease: the European experience, PLoS One, 4, e5234, 10.1371/journal.pone.0005234

Mahdaviani, 2013, Pulmonary manifestations of chronic granulomatous disease, Expert Rev Clin Immunol, 9, 153, 10.1586/eci.12.98

Salvator, 2015, Pulmonary manifestations in adult patients with chronic granulomatous disease, Eur Respir J, 45, 1613, 10.1183/09031936.00118414

Rosenzweig, 2008, Inflammatory manifestations in chronic granulomatous disease (CGD), J Clin Immunol, 28, S67, 10.1007/s10875-007-9160-5

Meissner, 2010, Inflammasome activation in NADPH oxidase defective mononuclear phagocytes from patients with chronic granulomatous disease, Blood, 116, 1570, 10.1182/blood-2010-01-264218

Liese, 2000, Long-term follow-up and outcome of 39 patients with chronic granulomatous disease, J Pediatr, 137, 687, 10.1067/mpd.2000.109112

Siddiqui, 2007, Fulminant mulch pneumonitis: an emergency presentation of chronic granulomatous disease, Clin Infect Dis, 45, 673, 10.1086/520985

Magnani, 2014, Inflammatory manifestations in a single-center cohort of patients with chronic granulomatous disease, J Allergy Clin Immunol, 134, 655, 10.1016/j.jaci.2014.04.014

Kuijpers, 2012, Inflammation and repeated infections in CGD: two sides of a coin, Cell Mol Life Sci, 69, 7, 10.1007/s00018-011-0834-z

Godoy, 2008, Chest radiographic and CT manifestations of chronic granulomatous disease in adults, AJR Am J Roentgenol, 191, 1570, 10.2214/AJR.07.3482

Towbin, 2010, Chronic granulomatous disease, Pediatr Radiol, 40, 657, 10.1007/s00247-009-1503-3

McLean-Tooke, 2007, An unusual cause of granulomatous disease, BMC Clin Pathol, 7, 1, 10.1186/1472-6890-7-1

Brunner, 2007, X-linked chronic granulomatous disease (CGD) caused by an intra-exonic splice mutation (CYBB exon 3, c.262G->A) is mimicking juvenile sarcoidosis, Clin Exp Rheumatol, 25, 336

Hauck, 2008, Chronic granulomatous disease (CGD) mimicking neoplasms: a suspected mediastinal teratoma unmasking as thymic granulomas due to X-linked CGD, and 2 related cases, J Pediatr Hematol Oncol, 30, 877, 10.1097/MPH.0b013e31818ab153

Ameratunga, 2010, Fulminant mulch pneumonitis in undiagnosed chronic granulomatous disease: a medical emergency, Clin Pediatr (Phila), 49, 1143, 10.1177/0009922810370057

Jarukitsopa, 2015, Epidemiology of systemic lupus erythematosus and cutaneous lupus erythematosus in a predominantly white population in the United States, Arthritis Care Res (Hoboken), 67, 817, 10.1002/acr.22502

Claps, 2014, How should eosinophilic cystitis be treated in patients with chronic granulomatous disease, Pediatr Nephrol, 29, 2229, 10.1007/s00467-014-2883-7

Dunogué, 2017, Chronic granulomatous disease in patients reaching adulthood: a nationwide study in France, Clin Infect Dis, 64, 767, 10.1093/cid/ciw837

Kang, 2011, Chronic granulomatous disease: overview and hematopoietic stem cell transplantation, J Allergy Clin Immunol, 127, 1319, 10.1016/j.jaci.2011.03.028

Chowdhury, 2000, The dermatosis of chronic granulomatous disease, Clin Exp Dermatol, 25, 190, 10.1046/j.1365-2230.2000.00610.x

Köker, 2013, Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients, J Allergy Clin Immunol, 132, 1156, 10.1016/j.jaci.2013.05.039

Thomsen, 2012, Chronic granulomatous disease masquerading as Behçet disease: a case report and review of the literature, Pediatr Infect Dis J, 31, 529, 10.1097/INF.0b013e3182481ed9

Parekh, 2011, Hemophagocytic lymphohistiocytosis in children with chronic granulomatous disease, Pediatr Blood Cancer, 56, 460, 10.1002/pbc.22830

Holland, 2013, Chronic granulomatous disease, Hematol Oncol Clin North Am, 27, 89, 10.1016/j.hoc.2012.11.002

Walther, 1992, The urological manifestations of chronic granulomatous disease, J Urol, 147, 1314, 10.1016/S0022-5347(17)37552-3

Bauer, 1991, Vesical manifestations of chronic granulomatous disease in children. Its relation to eosinophilic cystitis, Urology, 37, 463, 10.1016/0090-4295(91)80112-K

Redman, 2002, Extensive inflammatory eosinophilic bladder tumors in children: experience with three cases, South Med J, 95, 1050

Kontras, 1971, Interstitial cystitis in chronic granulomatous disease, J Urol, 105, 575, 10.1016/S0022-5347(17)61580-5

Barese, 2004, Recurrent eosinophilic cystitis in a child with chronic granulomatous disease, J Pediatr Hematol Oncol, 26, 209, 10.1097/00043426-200403000-00014

Macfarlane, 1967, Fatal granulomatous disease of childhood and benign lymphocytic infiltration of the skin (congenital dysphagocytosis), Lancet, 1, 408, 10.1016/S0140-6736(67)91174-9

Seger, 2008, Modern management of chronic granulomatous disease, Br J Haematol, 140, 255, 10.1111/j.1365-2141.2007.06880.x

Feingold, 2016, Thoracic surgery in chronic granulomatous disease: a 25-year single-institution experience, J Clin Immunol, 36, 677, 10.1007/s10875-016-0319-9

Eckert, 1995, The surgical implications of chronic granulomatous disease, Am J Surg, 169, 320, 10.1016/S0002-9610(99)80167-6

Lublin, 2002, Hepatic abscess in patients with chronic granulomatous disease, Ann Surg, 235, 383, 10.1097/00000658-200203000-00010

Libert, 2010, The X chromosome in immune functions: when a chromosome makes the difference, Nat Rev Immunol, 10, 594, 10.1038/nri2815

Anderson-Cohen, 2003, Severe phenotype of chronic granulomatous disease presenting in a female with a de novo mutation in gp91-phox and a non familial, extremely skewed X chromosome inactivation, Clin Immunol, 109, 308, 10.1016/j.clim.2003.08.002

Wolach, 2005, Unusual late presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB, Blood, 105, 61, 10.1182/blood-2004-02-0675

Lewis, 2008, X-linked chronic granulomatous disease secondary to skewed X chromosome inactivation in a female with a novel CYBB mutation and late presentation, Clin Immunol, 129, 372, 10.1016/j.clim.2008.07.022

Hauck, 2016, Diagnostic and treatment options for severe IBD in female X-CGD carriers with non-random X-inactivation, J Crohns Colitis, 10, 112, 10.1093/ecco-jcc/jjv186

Rösen-Wolff, 2001, Increased susceptibility of a carrier of X-linked chronic granulomatous disease (CGD) to Aspergillus fumigatus infection associated with age-related skewing of lyonization, Ann Hematol, 80, 113, 10.1007/s002770000230

Battersby, 2017, Inflammatory and autoimmune manifestations in X-linked carriers of chronic granulomatous disease in the United Kingdom, J Allergy Clin Immunol, 140, 628, 10.1016/j.jaci.2017.02.029

Battersby, 2013, Clinical manifestations of disease in X-linked carriers of chronic granulomatous disease, J Clin Immunol, 33, 1276, 10.1007/s10875-013-9939-5

Marciano, 2018, X-linked carriers of chronic granulomatous disease: illness, lyonization, and stability, J Allergy Clin Immunol, 141, 365, 10.1016/j.jaci.2017.04.035

Goldblatt, 1999, Chorioretinal lesions in patients and carriers of chronic granulomatous disease, J Pediatr, 134, 780, 10.1016/S0022-3476(99)70299-4

Sillevis Smitt, 1990, Discoid lupus erythematosus-like lesions in carriers of X-linked chronic granulomatous disease, Br J Dermatol, 122, 643, 10.1111/j.1365-2133.1990.tb07286.x

Brandrup, 1981, Discoid lupus erythematosus-like lesions and stomatitis in female carriers of X-linked chronic granulomatous disease, Br J Dermatol, 104, 495, 10.1111/j.1365-2133.1981.tb08163.x

Kragballe, 1981, Relation of monocyte and neutrophil oxidative metabolism to skin and oral lesions in carriers of chronic granulomatous disease, Clin Exp Immunol, 43, 390

Cale, 2007, Cutaneous and other lupus-like symptoms in carriers of X-linked chronic granulomatous disease: incidence and autoimmune serology, Clin Exp Immunol, 148, 79, 10.1111/j.1365-2249.2007.03321.x

Moltyaner, 2003, Underlying chronic granulomatous disease in a patient with bronchocentric granulomatosis, Thorax, 58, 1096, 10.1136/thorax.58.12.1096

Foti, 2004, Lupus erythematosus-like lesions in a carrier of X-linked chronic granulomatous disease: a case report and personal considerations, Int J Dermatol, 43, 840, 10.1111/j.1365-4632.2004.01950.x

Lekstrom-Himes, 2005, Inhibition of human neutrophil IL-8 production by hydrogen peroxide and dysregulation in chronic granulomatous disease, J Immunol, 174, 411, 10.4049/jimmunol.174.1.411

van de Veerdonk, 2010, Reactive oxygen species-independent activation of the IL-1beta inflammasome in cells from patients with chronic granulomatous disease, Proc Natl Acad Sci U S A, 107, 3030, 10.1073/pnas.0914795107

de Luca, 2014, IL-1 receptor blockade restores autophagy and reduces inflammation in chronic granulomatous disease in mice and in humans, Proc Natl Acad Sci U S A, 111, 3526, 10.1073/pnas.1322831111

Kasahara, 1997, Involvement of reactive oxygen intermediates in spontaneous and CD95 (Fas/APO-1)-mediated apoptosis of neutrophils, Blood, 89, 1748, 10.1182/blood.V89.5.1748

Rieber, 2012, Current concepts of hyperinflammation in chronic granulomatous disease, Clin Dev Immunol, 2012, 252460, 10.1155/2012/252460

Brown, 2003, Diminished production of anti-inflammatory mediators during neutrophil apoptosis and macrophage phagocytosis in chronic granulomatous disease (CGD), J Leukoc Biol, 73, 591, 10.1189/jlb.1202599

Sanford, 2006, Abnormal apoptosis in chronic granulomatous disease and autoantibody production characteristic of lupus, Rheumatology (Oxford), 45, 178, 10.1093/rheumatology/kei135

Singel, 2016, NOX2-dependent regulation of inflammation, Clin Sci (Lond), 130, 479, 10.1042/CS20150660

Harbort, 2015, Neutrophil oxidative burst activates ATM to regulate cytokine production and apoptosis, Blood, 126, 2842, 10.1182/blood-2015-05-645424

Sanmun, 2009, Involvement of a functional NADPH oxidase in neutrophils and macrophages during programmed cell clearance: implications for chronic granulomatous disease, Am J Physiol Cell Physiol, 297, C621, 10.1152/ajpcell.00651.2008

Fernandez-Boyanapalli, 2015, Impaired efferocytosis in human chronic granulomatous disease is reversed by pioglitazone treatment, J Allergy Clin Immunol, 136, 1399, 10.1016/j.jaci.2015.07.034

Foster, 1998, Host defense molecule polymorphisms influence the risk for immune-mediated complications in chronic granulomatous disease, J Clin Invest, 102, 2146, 10.1172/JCI5084

Sibley, 2014, Assessment of atherosclerosis in chronic granulomatous disease, Circulation, 130, 2031, 10.1161/CIRCULATIONAHA.113.006824

Jaggi, 2012, Utility of screening for chronic granulomatous disease in patients with inflammatory bowel disease, J Clin Immunol, 32, 78, 10.1007/s10875-011-9608-5

Sullivan, 2014, USIDNET: a strategy to build a community of clinical immunologists, J Clin Immunol, 34, 428, 10.1007/s10875-014-0028-1