慢性肉芽肿病

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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.全文  摘要

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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.全文  摘要

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. 摘要

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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. 摘要

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. 摘要

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.全文  摘要

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. 摘要

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. 摘要

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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.全文  摘要

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. 摘要

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

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. 摘要

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. 摘要

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. 摘要

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

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

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):341-5全文  摘要

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. 摘要

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.全文  摘要

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. 摘要

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. 摘要

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. 摘要

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. 摘要

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. 摘要

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.全文  摘要

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. 摘要

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

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. 摘要

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.全文  摘要

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

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.全文  摘要

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.全文  摘要

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

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

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.全文  摘要

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. 摘要

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.全文  摘要

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. 摘要

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

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.全文  摘要

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. 摘要

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. 摘要

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.全文  摘要

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. 摘要

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.全文  摘要

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 摘要

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.全文  摘要

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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. 摘要

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.全文  摘要

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

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. 摘要

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. 摘要

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. 摘要

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.全文  摘要

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. 摘要

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. 摘要

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.全文  摘要

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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. 摘要

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.全文  摘要

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.全文  摘要

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. 摘要

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

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. 摘要

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.全文  摘要

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