Doença granulomatosa crônica

Referências

Principais artigos

Thomsen IP, Smith MA, Holland SM, et al. A comprehensive approach to the management of children and adults with chronic granulomatous disease. J Allergy Clin Immunol Pract. 2016 Nov-Dec;4(6):1082-8. Resumo

Bonilla FA, Khan DA, Ballas ZK, et al. Practice parameter for the diagnosis and management of primary immunodeficiency. J Allergy Clin Immunol. 2015 Nov;136(5):1186-205.e1-78.Texto completo  Resumo

Artigos de referência

1. Rosenzweig SD, Uzel G, Holland SM. Phagocyte disorders. In: Stiehm ER, Ochs HD, Winkelstein JA, eds. Immunologic disorders in infants and children. Philadelphia, PA: Elsevier Saunders; 2004:618-51.

2. Segal BH, Leto TL, Gallin JI, et al. Genetic, biochemical, and clinical features of chronic granulomatous disease. Medicine (Baltimore). 2000 May;79(3):170-200. Resumo

3. Rosenzweig SD, Uzel G, Holland SM. Phagocyte disorders. In: Stiehm ER, Ochs HD, Winkelstein JA, eds. Immunologic disorders in infants and children. Philadelphia, PA: Elsevier Saunders; 2004:618-51.

4. Segal BH, Leto TL, Gallin JI, et al. Genetic, biochemical, and clinical features of chronic granulomatous disease. Medicine (Baltimore). 2000 May;79(3):170-200. Resumo

5. Winkelstein JA, Marino MC, Johnston RB Jr., et al. Chronic granulomatous disease: report on a national registry of 368 patients. Medicine (Baltimore). 2000 May;79(3):155-69. Resumo

6. van den Berg JM, van Koppen E, Ahlin A, et al. Chronic granulomatous disease: the European experience. PLoS One. 2009;4(4):e5234.Texto completo  Resumo

7. Bustamante J, Aksu G, Vogt G, et al. BCG-osis and tuberculosis in a child with chronic granulomatous disease. J Allergy Clin Immunol. 2007 Jul;120(1):32-8. Resumo

8. Marciano BE, Rosenzweig SD, Kleiner DE, et al. Gastrointestinal involvement in chronic granulomatous disease. Pediatrics. 2004 Aug;114(2):462-8. Resumo

9. Huang JS, Noack D, Rae J, et al. Chronic granulomatous disease caused by a deficiency of p47phox mimicking Crohn's disease. Clin Gastroenterol Hepatol. 2004 Aug;2(8):690-5. Resumo

10. Huang A, Abbasakoor F, Vaizey CJ. Gastrointestinal manifestations of chronic granulomatous disease. Colorectal Dis. 2004 Aug;2(8):690-5. Resumo

11. Schappi MG, Smith VV, Goldblatt D, et al. Colitis in chronic granulomatous disease. Arch Dis Child. 2001 Feb;84(2):147-51.Texto completo  Resumo

12. Schappi MG, Klein NJ, Lindley KJ, et al. The nature of colitis in chronic granulomatous disease. J Pediatr Gastroenterol Nutr. 2003 May;36(5):623-31.Texto completo  Resumo

13. Walther MM, Malech H, Berman A, et al. The urological manifestations of chronic granulomatous disease. J Urol. 1992 May;147(5):1314-8. Resumo

14. Lublin M, Bartlett DL, Danforth DN, et al. Hepatic abscess in patients with chronic granulomatous disease. Ann Surg. 2002 Mar;235(3):383-91.Texto completo  Resumo

15. Hasui M. Chronic granulomatous disease in Japan: incidence and natural history. The Study Group of Phagocyte Disorders of Japan. Pediatr Int. 1999 Oct;41(5):589-93. Resumo

16. Rider NL, Jameson MB, Creech CB. Chronic granulomatous disease: epidemiology, pathophysiology, and genetic basis of disease. J Pediatric Infect Dis Soc. 2018 May 9;7(suppl 1):S2-S5.Texto completo  Resumo

17. Jones LB, McGrogan P, Flood TJ, et al. Special article: chronic granulomatous disease in the United Kingdom and Ireland: a comprehensive national patient-based registry. Clin Exp Immunol. 2008 May;152(2):211-8.Texto completo  Resumo

18. Mouy R, Veber F, Blanche S, et al. Long-term itraconazole prophylaxis against Aspergillus infections in thirty-two patients with chronic granulomatous disease. J Pediatr. 1994 Dec;125(6 Pt 1):998-1003. Resumo

19. Martire B, Rondelli R, Soresina A, et al. Clinical features, long-term follow-up and outcome of a large cohort of patients with chronic granulomatous disease: an Italian multicenter study. Clin Immunol. 2008 Feb;126(2):155-64. Resumo

20. Chronic Granulomatous Disorder Society. Chronic granulomatous disorder: a guide for medical professionals. February 2019 [internet publication].Texto completo

21. Matute JD, Arias AA, Wright NA, et al. A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity. Blood. 2009 Oct 8;114(15):3309-15.Texto completo  Resumo

22. Thomas DC, Charbonnier LM, Schejtman A, et al. EROS/CYBC1 mutations: decreased NADPH oxidase function and chronic granulomatous disease. J Allergy Clin Immunol. 2019 Feb;143(2):782-5.e1.Texto completo  Resumo

23. Chiriaco M, Salfa I, Di Matteo G, et al. Chronic granulomatous disease: clinical, molecular, and therapeutic aspects. Pediatr Allergy Immunol. 2016 May;27(3):242-53. Resumo

24. Reeves EP, Lu H, Jacobs HL, et al. Killing activity of neutrophils is mediated through activation of proteases by K+ flux. Nature. 2002 Mar 21;416(6878):291-7. Resumo

25. Segal AW. How neutrophils kill microbes. Annu Rev Immunol. 2005 Apr 23;23:197-223.Texto completo  Resumo

26. Messina CG, Reeves EP, Roes J, et al. Catalase negative Staphylococcus aureus retain virulence in mouse model of chronic granulomatous disease. FEBS Lett. 2002 May 8;518(1-3):107-10. Resumo

27. Chang YC, Segal BH, Holland SM, et al. Virulence of catalase-deficient Aspergillus nidulans in p47phox-/- mice: implications for fungal pathogenicity and host defense in chronic granulomatous disease. J Clin Invest. 1998 May 1;101(9):1843-50.Texto completo  Resumo

28. Bianchi M, Hakkim A, Brinkmann V, et al. Restoration of NET formation by gene therapy in CGD controls aspergillosis. Blood. 2009 Sep 24;114(13):2619-22.Texto completo  Resumo

29. Kuhns DB, Alvord WG, Heller T, et al. Residual NADPH oxidase and survival in chronic granulomatous disease. N Engl J Med. 2010 Dec 30;363(27):2600-10.Texto completo  Resumo

30. Rosen-Wolff A, Soldan W, Heyne K, et al. 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. 2001 Feb;80(2):113-5. Resumo

31. Anderson-Cohen M, Holland SM, Kuhns DB, et al. Severe phenotype of chronic granulomatous disease presenting in a female with a de novo mutation in gp91phox and a non familial, extremely skewed X chromosome inactivation. Clin Immunol. 2003 Dec;109(3):308-17. Resumo

32. Chollet-Martin S, Lopez A, Gaud C, et al. Severe X-linked chronic granulomatous disease in two unrelated females. Eur J Pediatr. 2007 Feb;166(2):153-9. Resumo

33. Foster CB, Lehrnbecher T, Mol F, et al. Host defense molecule polymorphisms influence the risk for immune-mediated complications in chronic granulomatous disease. J Clin Invest. 1998 Dec 15;102(12):2146-55.Texto completo  Resumo

34. Marciano BE, Spalding C, Fitzgerald A, et al. Common severe infections in chronic granulomatous disease. Clin Infect Dis. 2015 Apr 15;60(8):1176-83. Resumo

35. Henriet S, Verweij PE, Holland SM, et al. Invasive fungal infections in patients with chronic granulomatous disease. Adv Exp Med Biol. 2012 Dec 11;764:27-55. Resumo

36. Conti F, Lugo-Reyes SO, Blancas Galicia L, et al. Mycobacterial disease in patients with chronic granulomatous disease: a retrospective analysis of 71 cases. J Allergy Clin Immunol. 2016 Jul;138(1):241-8. Resumo

37. Campos LC, Di Colo G, Dattani V, et al. Long-term outcomes for adults with chronic granulomatous disease in the United Kingdom. J Allergy Clin Immunol. 2021 Mar;147(3):1104-7.Texto completo  Resumo

38. Salvator H, Mahlaoui N, Catherinot E, et al. Pulmonary manifestations in adult patients with chronic granulomatous disease. Eur Respir J. 2015 Jun;45(6):1613-23. Resumo

39. Rosenzweig SD. Inflammatory manifestations in chronic granulomatous disease (CGD). J Clin Immunol. 2008 May;28 Suppl 1:S67-72. Resumo

40. Battersby AC, Braggins H, Pearce MS, et al. Inflammatory and autoimmune manifestations in X-linked carriers of chronic granulomatous disease in the United Kingdom. J Allergy Clin Immunol. 2017 Aug;140(2):628-30. Resumo

41. Marciano BE, Zerbe CS, Falcone EL, et al. X-linked carriers of chronic granulomatous disease: Illness, lyonization, and stability. J Allergy Clin Immunol. 2018 Jan;141(1):365-71. Resumo

42. Liese J, Kloos S, Jendrossek V, et al. Long-term follow-up and outcome of 39 patients with chronic granulomatous disease. J Pediatr. 2000 Nov;137(5):687-93. Resumo

43. Finn A, Hadzic N, Morgan G, et al. Prognosis of chronic granulomatous disease. Arch Dis Child. 1990 Sep;65(9):942-5.Texto completo  Resumo

44. Fischer A, Segal AW, Seger R, et al. The management of chronic granulomatous disease. Eur J Pediatr. 1993 Nov;152(11):896-9. Resumo

45. Gungor T, Engel-Bicik I, Eich G, et al. Diagnostic and therapeutic impact of whole body positron emission tomography using fluorine-18-fluoro-2-deoxy-D-glucose in children with chronic granulomatous disease. Arch Dis Child. 2001 Oct;85(4):341-5Texto completo  Resumo

46. Thomsen IP, Smith MA, Holland SM, et al. A comprehensive approach to the management of children and adults with chronic granulomatous disease. J Allergy Clin Immunol Pract. 2016 Nov-Dec;4(6):1082-8. Resumo

47. Lowe DM, Smith PJ, Moreira F, et al. Chronic granulomatous disorder-associated colitis can be accurately evaluated with MRI scans and fecal calprotectin level. J Clin Immunol. 2019 Jul;39(5):494-504.Texto completo  Resumo

48. Repine JE, Rasmussen B, White JG. An improved nitroblue tetrazolium test using phorbol myristate acetate-coated coverslips. Am J Clin Pathol. 1979 May;71(5):582-5. Resumo

49. Johansen KS. Nitroblue tetrazolium slide test. Use of the phorbol-myristate-acetate-stimulated NBT-reduction slide test for routine and prenatal detection of chronic granulomatous disease and diagnosis of heterozygous carriers. Acta Pathol Microbiol Immunol Scand [C]. 1983 Dec;91(6):349-54. Resumo

50. Jirapongsananuruk O, Malech HL, Kuhns DB, et al. Diagnostic paradigm for evaluation of male patients with chronic granulomatous disease, based on the dihydrorhodamine 123 assay. J Allergy Clin Immunol. 2003 Feb;111(2):374-9. Resumo

51. Vowells SJ, Fleischer TA, Sekhsaria S, et al. Genotype-dependent variability in flow cytometric evaluation of reduced nicotinamide adenine dinucleotide phosphate oxidase function in patients with chronic granulomatous disease. J Pediatr. 1996 Jan;128(1):104-7. Resumo

52. Roesler J, Hecht M, Freihorst J, et al. Diagnosis of chronic granulomatous disease and its mode of inheritance by dihydrorhodamine 123 and flow microcytofluorometry. Eur J Pediatr. 1991 Jan;150(3):161-5. Resumo

53. Bonilla FA, Khan DA, Ballas ZK, et al. Practice parameter for the diagnosis and management of primary immunodeficiency. J Allergy Clin Immunol. 2015 Nov;136(5):1186-205.e1-78.Texto completo  Resumo

54. Soler-Palacin P, Margareto C, Llobet P, et al. Chronic granulomatous disease in pediatric patients: 25 years of experience. Allergol Immunopathol (Madr). 2007 May-Jun;35(3):83-9. Resumo

55. Kim SJ, Kim JG, Yu YS. Chorioretinal lesions in patients with chronic granulomatous disease. Retina. 2003 Jun;23(3):360-5. Resumo

56. Goldblatt D, Butcher J, Thrasher AJ, et al. Chorioretinal lesions in patients and carriers of chronic granulomatous disease. J Pediatr. 1999 Jun;134(6):780-3. Resumo

57. Yao Q, Zhou QH, Shen QL, et al. Imaging findings of pulmonary manifestations of chronic granulomatous disease in a large single center from Shanghai, China (1999-2018). Sci Rep. 2020 Nov 9;10(1):19349.Texto completo  Resumo

58. Lekstrom-Himes JA, Gallin JI. Immunodeficiency diseases caused by defects in phagocytes. N Engl J Med. 2000 Dec 7;343(23):1703-14. Resumo

59. Mauch L, Lun A, O'Gorman MR, et al. Chronic granulomatous disease (CGD) and complete myeloperoxidase deficiency both yield strongly reduced dihydrorhodamine 123 test signals but can be easily discerned in routine testing for CGD. Clin Chem. 2000 Dec 7;343(23):1703-14.Texto completo  Resumo

60. Herbrecht R, Denning DW, Patterson TF, et al. Voriconazole versus amphotericin B for primary therapy of invasive aspergillosis. N Engl J Med. 2002 Aug 8;347(6):408-15.Texto completo  Resumo

61. Antachopoulos C, Walsh TJ, Roilides E. Fungal infections in primary immunodeficiencies. Eur J Pediatr. 2007 Nov;166(11):1099-117. Resumo

62. Seger RA. Modern management of chronic granulomatous disease. Br J Haematol. 2008 Feb;140(3):255-66. Resumo

63. Bielorai B, Toren A, Wolach B, et al. Successful treatment of invasive aspergillosis in chronic granulomatous disease by granulocyte transfusion followed by peripheral blood stem cell transplantation. Bone Marrow Transplant. 2000 Nov;26(9):1025-8.Texto completo  Resumo

64. Yomtovian R, Abramson J, Quie P, et al. Granulocyte transfusion therapy in chronic granulomatous disease. Report of a patient and review of the literature. Transfusion. 1981 Nov-Dec;21(6):739-43. Resumo

65. Ozsahin H, von Planta M, Muller I, et al. Successful treatment of invasive aspergillosis in chronic granulomatous disease by bone marrow transplantation, granulocyte colony-stimulating factor-mobilized granulocytes, and liposomal amphotericin B. Blood. 1998 Oct 15;92(8):2719-24.Texto completo  Resumo

66. Ikinciogullari A, Dogu F, Solaz N, et al. Granulocyte transfusions in children with chronic granulomatous disease and invasive aspergillosis. Ther Apher Dial. 2005 Apr;9(2):137-41. Resumo

67. Stroncek DF, Leonard K, Eiber G, et al. Alloimmunization after granulocyte transfusions. Transfusion. 1996 Nov-Dec;36(11-12):1009-15. Resumo

68. Leiding JW, Freeman AF, Marciano BE, et al. Corticosteroid therapy for liver abscess in chronic granulomatous disease. Clin Infect Dis. 2012 Mar 1;54(5):694-700.Texto completo  Resumo

69. Straughan DM, McLoughlin KC, Mullinax JE, et al. The changing paradigm of management of liver abscesses in chronic granulomatous disease. Clin Infect Dis. 2018 Apr 17;66(9):1427-34. Resumo

70. Lekstrom-Himes JA, Holland SM, DeCarlo ES, et al. Treatment with intralesional granulocyte instillations and interferon-gamma for a patient with chronic granulomatous disease and multiple hepatic abscesses. Clin Infect Dis. 1994 Oct;19(4):770-3. Resumo

71. Uzel G, Orange JS, Poliak N, et al. Complications of tumor necrosis factor-α blockade in chronic granulomatous disease-related colitis. Clin Infect Dis. 2010 Dec 15;51(12):1429-34.Texto completo  Resumo

72. Margolis DM, Melnick DA, Alling DW, et al. Trimethoprim-sulfamethoxazole prophylaxis in the management of chronic granulomatous disease. J Infect Dis. 1990 Sep;162(3):723-6. Resumo

73. Gallin JI, Alling DW, Malech HL, et al. Itraconazole to prevent fungal infections in chronic granulomatous disease. N Engl J Med. 2003 Jun 12;348(24):2416-22.Texto completo  Resumo

74. Williams K, Mansh M, Chin-Hong P, et al. Voriconazole-associated cutaneous malignancy: a literature review on photocarcinogenesis in organ transplant recipients. Clin Infect Dis. 2014 Apr;58(7):997-1002 Resumo

75. Segal BH, Barnhart LA, Anderson VL, et al. Posaconazole as salvage therapy in patients with chronic granulomatous disease and invasive filamentous fungal infection. Clin Infect Dis. 2005 Jun 1;40(11):1684-8.Texto completo  Resumo

76. The International Chronic Granulomatous Disease Cooperative Study Group. A controlled trial of interferon gamma to prevent infection in chronic granulomatous disease. N Engl J Med. 1991 Feb 21;324(8):509-16. Resumo

77. Weening RS, Leitz GJ, Seger RA. Recombinant human interferon-gamma in patients with chronic granulomatous disease - European follow up study. Eur J Pediatr. 1995 Apr;154(4):295-8. Resumo

78. Marciano BE, Wesley R, De Carlo ES, et al. Long-term interferon-gamma therapy for patients with chronic granulomatous disease. Clin Infect Dis. 2004 Sep 1;39(5):692-9.Texto completo  Resumo

79. Goldblatt D. Current treatment options for chronic granulomatous disease. Expert Opin Pharmacother. 2002 Jul;3(7):857-63. Resumo

80. Hasegawa D, Fukushima M, Hosokawa Y, et al. Successful treatment of chronic granulomatous disease with fludarabine-based reduced-intensity conditioning and unrelated bone marrow transplantation. Int J Hematol. 2008 Jan;87(1):88-90. Resumo

81. Sastry J, Kakakios A, Tugwell H, et al. Allogeneic bone marrow transplantation with reduced intensity conditioning for chronic granulomatous disease complicated by invasive Aspergillus infection. Pediatr Blood Cancer. 2006 Sep;47(3):327-9. Resumo

82. Parikh SH, Szabolcs P, Prasad VK, et al. Correction of chronic granulomatous disease after second unrelated-donor umbilical cord transplantation. Pediatr Blood Cancer. 2007 Dec;49(7):982-4. Resumo

83. Seger RA, Gungor T, Belohradsky BH, et al. Treatment of chronic granulomatous disease with myeloablative conditioning and an unmodified hemopoietic allograft: a survey of the European experience, 1985-2000. Blood. 2002 Dec 15;100(13):4344-50.Texto completo  Resumo

84. Del Giudice I, Iori AP, Mengarelli A, et al. Allogeneic stem cell transplant from HLA-identical sibling for chronic granulomatous disease and review of the literature. Ann Hematol. 2003 Mar;82(3):189-92. Resumo

85. Kansoy S, Kutukculer N, Aksoylar S, et al. Successful bone marrow transplantation in an 8-month-old patient with chronic granulomatous disease. Turk J Pediatr. 2006 Jul-Sep;48(3):253-5. Resumo

86. Soncini E, Slatter MA, Jones LB, et al. Unrelated donor and HLA-identical sibling haematopoietic stem cell transplantation cure chronic granulomatous disease with good long-term outcome and growth. Br J Haematol. 2009 Apr;145(1):73-83.Texto completo  Resumo

87. InterMune, Inc. Product information: Actimmune (interferon gamma-1b). 2020 [internet publication].Texto completo

88. Kohn DB, Booth C, Kang EM, et al. Lentiviral gene therapy for X-linked chronic granulomatous disease. Nat Med. 2020 Feb;26(2):200-6. Resumo

89. Migliavacca M, Assanelli A, Ferrua F, et al. Pioglitazone as a novel therapeutic approach in chronic granulomatous disease. J Allergy Clin Immunol. 2016 Jun;137(6):1913-1915.e2.Texto completo  Resumo

90. Fernandez-Boyanapalli RF, Falcone EL, Zerbe CS, et al. Impaired efferocytosis in human chronic granulomatous disease is reversed by pioglitazone treatment. J Allergy Clin Immunol. 2015 Nov;136(5):1399-401.Texto completo  Resumo

91. Hui X, Liu D, Wang W, et al. Low-dose pioglitazone does not increase ROS production in chronic granulomatous disease patients with severe infection. J Clin Immunol. 2020 Jan;40(1):131-7. Resumo

92. Magnani A, Mahlaoui N. Managing inflammatory manifestations in patients with chronic granulomatous disease. Paediatr Drugs. 2016 Oct;18(5):335-45. Resumo

93. Campbell N, Chapdelaine H. Treatment of chronic granulomatous disease-associated fistulising colitis with vedolizumab. J Allergy Clin Immunol Pract. 2017 Nov-Dec;5(6):1748-9. Resumo

94. Kamal N, Marciano B, Curtin B, et al. The response to vedolizumab in chronic granulomatous disease-related inflammatory bowel disease. Gastroenterol Rep (Oxf). 2020 Oct;8(5):404-6.Texto completo  Resumo

95. Goldblatt D, Thrasher AJ. Chronic granulomatous disease. Clin Exp Immunol. 2000 Oct;122(1):1-9.Texto completo  Resumo

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