Chronic granulomatous disease

References

Key articles

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. Abstract

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.Full text  Abstract

Reference articles

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20. 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. Abstract

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26. 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.Full text  Abstract

27. 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. Abstract

28. 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. Abstract

29. 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. Abstract

30. 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.Full text  Abstract

31. 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. Abstract

32. 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. Abstract

33. 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. Abstract

34. 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.Full text  Abstract

35. 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. Abstract

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

37. 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. Abstract

38. 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. Abstract

39. 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. Abstract

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

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

42. 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.Full text  Abstract

43. 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. Abstract

44. 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.Full text  Abstract

45. 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. Abstract

46. 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. Abstract

47. 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. Abstract

48. 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. Abstract

49. 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. Abstract

50. 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.Full text  Abstract

51. 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. Abstract

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

53. 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. Abstract

54. 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.Full text  Abstract

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

56. 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.Full text  Abstract

57. 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.Full text  Abstract

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

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

60. 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.Full text  Abstract

61. 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. Abstract

62. 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.Full text  Abstract

63. 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. Abstract

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

65. 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.Full text  Abstract

66. 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. Abstract

67. 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. Abstract

68. 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.Full text  Abstract

69. 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. Abstract

70. 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.Full text  Abstract

71. 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. Abstract

72. 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.Full text  Abstract

73. 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. Abstract

74. 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. Abstract

75. 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.Full text  Abstract

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

77. 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. Abstract

78. 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. Abstract

79. 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. Abstract

80. 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.Full text  Abstract

81. 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. Abstract

82. 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. Abstract

83. 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.Full text  Abstract

84. InterMune, Inc. Product information: Actimmune (interferon gamma-1b). 2020 [internet publication].Full text

85. 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. Abstract

86. 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.Full text  Abstract

87. 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.Full text  Abstract

88. 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. Abstract

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

90. 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. Abstract

91. 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.Full text  Abstract

92. Goldblatt D, Thrasher AJ. Chronic granulomatous disease. Clin Exp Immunol. 2000 Oct;122(1):1-9.Full text  Abstract

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