Chronic Granulomatous Disease Questions & Answers

1. Roos D, de Boer M. Molecular diagnosis of chronic granulomatous disease. Clin Exp Immunol. 2014. 175(2):139-49. [QxMD MEDLINE Link]. [Full Text].

2. Babiker A, Gupta N, Gibas CFC, Wiederhold NP, Sanders C, Mele J, et al. Rasamsonia sp: An emerging infection amongst chronic granulomatous disease patients. A case of disseminated infection by a putatively novel Rasamsonia argillacea species complex involving the heart. Med Mycol Case Rep. 2019 Jun. 24:54-57. [QxMD MEDLINE Link].

3. Segal BH, Romani L, Puccetti P. Chronic granulomatous disease. Cell Mol Life Sci. 2009 Feb. 66(4):553-8. [QxMD MEDLINE Link].

4. Hauck F, Heine S, Beier R, Wieczorek K, Müller D, Hahn G. 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. 2008 Dec. 30(12):877-80. [QxMD MEDLINE Link].

5. Rae J, Noack D, Heyworth PG, Ellis BA, Curnutte JT, Cross AR. Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22(phox). Blood. 2000 Aug 1. 96(3):1106-12. [QxMD MEDLINE Link].

6. Jurkowska M, Bernatowska E, Bal J. Genetic and biochemical background of chronic granulomatous disease. Arch Immunol Ther Exp (Warsz). 2004 Mar-Apr. 52(2):113-20. [QxMD MEDLINE Link].

7. Jurkowska M, Kurenko-Deptuch M, Bal J, Roos D. The search for a genetic defect in Polish patients with chronic granulomatous disease. Arch Immunol Ther Exp (Warsz). 2004 Nov-Dec. 52(6):441-6. [QxMD MEDLINE Link].

8. Stasia MJ, Bordigoni P, Floret D, et al. Characterization of six novel mutations in the CYBB gene leading to different sub-types of X-linked chronic granulomatous disease. Hum Genet. 2005 Jan. 116(1-2):72-82. [QxMD MEDLINE Link].

9. Noack D, Rae J, Cross AR, et al. Autosomal recessive chronic granulomatous disease caused by defects in NCF-1, the gene encoding the phagocyte p47-phox: mutations not arising in the NCF-1 pseudogenes. Blood. 2001 Jan 1. 97(1):305-11. [QxMD MEDLINE Link].

10. Segal BH, Leto TL, Gallin JI, Malech HL, Holland SM. Genetic, biochemical, and clinical features of chronic granulomatous disease. Medicine (Baltimore). May 2000. 79(3):170-200.

11. Johnston RB Jr. Clinical aspects of chronic granulomatous disease. Curr Opin Hematol. 2001 Jan. 8(1):17-22. [QxMD MEDLINE Link].

12. Bylund J, Campsall PA, Ma RC, Conway BA, Speert DP. Burkholderia cenocepacia induces neutrophil necrosis in chronic granulomatous disease. J Immunol. 2005 Mar 15. 174(6):3562-9. [QxMD MEDLINE Link].

13. Arnold DE, Heimall JR. A Review of Chronic Granulomatous Disease. Adv Ther. 2017 Dec. 34 (12):2543-2557. [QxMD MEDLINE Link].

14. Oh HB, Park JS, Lee W, Yoo SJ, Yang JH, Oh SY. Molecular analysis of X-linked chronic granulomatous disease in five unrelated Korean patients. J Korean Med Sci. 2004 Apr. 19(2):218-22. [QxMD MEDLINE Link].

15. Lun A, Roesler J, Renz H. Unusual late onset of X-linked chronic granulomatous disease in an adult woman after unsuspicious childhood. Clin Chem. 2002 May. 48(5):780-1. [QxMD MEDLINE Link].

16. Wolach B, Scharf Y, Gavrieli R, de Boer M, Roos D. Unusual late presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB. Blood. 2005 Jan 1. 105(1):61-6. [QxMD MEDLINE Link].

17. Fijolek J, Wiatr E, Gawryluk D, Bestry I, Bernatowska E, Jablonski W. [Chronic granulomatous disease recognised in 42-years-old patient]. Pneumonol Alergol Pol. 2008. 76(1):58-65. [QxMD MEDLINE Link].

18. Marciano BE, Spalding C, Fitzgerald A, Mann D, Brown T, Osgood S, et al. Common severe infections in chronic granulomatous disease. Clin Infect Dis. 2015. 60(8):1176-83. [QxMD MEDLINE Link]. [Full Text].

19. 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. [QxMD MEDLINE Link].

20. Carnide EG, Jacob CA, Castro AM, Pastorino AC. Clinical and laboratory aspects of chronic granulomatous disease in description of eighteen patients. Pediatr Allergy Immunol. 2005 Feb. 16(1):5-9. [QxMD MEDLINE Link].

21. Sarwar G, de Malmanche T, Rassam L, Grainge C, Williams A, Arnold D. Chronic granulomatous disease presenting as refractory pneumonia in late adulthood. Respirol Case Rep. 2015. 3(2):54-6. [QxMD MEDLINE Link]. [Full Text].

22. Chowdhury MM, Anstey A, Matthews CN. The dermatosis of chronic granulomatous disease. Clin Exp Dermatol. 2000 May. 25(3):190-4. [QxMD MEDLINE Link].

23. Chiriaco M, Salfa I, Di Matteo G, Rossi P, Finocchi A. Chronic granulomatous disease: Clinical, molecular, and therapeutic aspects. Pediatr Allergy Immunol. 2016 May. 27 (3):242-53. [QxMD MEDLINE Link].

24. Marciano BE, Rosenzweig SD, Kleiner DE, et al. Gastrointestinal involvement in chronic granulomatous disease. Pediatrics. 2004 Aug. 114(2):462-8. [QxMD MEDLINE Link].

25. Agudelo-Florez P, Lopez JA, Redher J, et al. The use of reverse transcription-PCR for the diagnosis of X-linked chronic granulomatous disease. Braz J Med Biol Res. 2004 May. 37(5):625-34. [QxMD MEDLINE Link].

26. Kuhns DB. Diagnostic Testing for Chronic Granulomatous Disease. Methods Mol Biol. 2019. 1982:543-571. [QxMD MEDLINE Link].

27. Agarwal S. Chronic Granulomatous Disease. J Clin Diagn Res. 2015 May. 9 (5):SD01-2. [QxMD MEDLINE Link].

28. Yamazaki-Nakashimada MA, Stiehm ER, Pietropaolo-Cienfuegos D, Hernandez-Bautista V, Espinosa-Rosales F. Corticosteroid therapy for refractory infections in chronic granulomatous disease: case reports and review of the literature. Ann Allergy Asthma Immunol. 2006 Aug. 97(2):257-61. [QxMD MEDLINE Link].

29. 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. [QxMD MEDLINE Link].

30. Tang XF, Lu W, Jing YF, Huang YZ, Wu NH, Luan Z. [A clinical study of haploid hematopoietic stem cells combined with third-party umbilical cord blood transplantation in the treatment of chronic granulomatous disease]. Zhongguo Dang Dai Er Ke Za Zhi. 2019 Jun. 21 (6):552-557. [QxMD MEDLINE Link].

31. Sweeney CL, Merling RK, De Ravin SS, Choi U, Malech HL. Gene Editing in Chronic Granulomatous Disease. Methods Mol Biol. 2019. 1982:623-665. [QxMD MEDLINE Link].

32. 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. [QxMD MEDLINE Link].

33. Wang J, Mayer L, Cunningham-Rundles C. Use of GM-CSF in the treatment of colitis associated with chronic granulomatous disease. J Allergy Clin Immunol. 2005 May. 115(5):1092-4. [QxMD MEDLINE Link].

34. Martinez CA, Shah S, Shearer WT, Rosenblatt HM, Paul ME, Chinen J, et al. Excellent survival after sibling or unrelated donor stem cell transplantation for chronic granulomatous disease. J Allergy Clin Immunol. 2012 Jan. 129(1):176-83. [QxMD MEDLINE Link].

35. Horwitz ME, Barrett AJ, Brown MR, et al. Treatment of chronic granulomatous disease with nonmyeloablative conditioning and a T-cell-depleted hematopoietic allograft. N Engl J Med. 2001 Mar 22. 344(12):881-8. [QxMD MEDLINE Link].

36. 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. [QxMD MEDLINE Link].

37. Grez M, Becker S, Saulnier S, et al. Gene therapy of chronic granulomatous disease. Bone Marrow Transplant. 2000 May. 25 Suppl 2:S99-104. [QxMD MEDLINE Link].

38. Kume A, Dinauer MC. Gene therapy for chronic granulomatous disease. J Lab Clin Med. 2000 Feb. 135(2):122-8. [QxMD MEDLINE Link].

39. Malech HL, Choi U, Brenner S. Progress toward effective gene therapy for chronic granulomatous disease. Jpn J Infect Dis. 2004 Oct. 57(5):S27-8. [QxMD MEDLINE Link].

40. Seger RA. Modern management of chronic granulomatous disease. Br J Haematol. 2008 Feb. 140(3):255-66. [QxMD MEDLINE Link].

41. Ballard E, Zoll J, Melchers WJG, Brown AJP, Warris A, Verweij PE. Raw genome sequence data for 13 isogenic Aspergillus fumigatus strains isolated over a 2 year period from a patient with chronic granulomatous disease. Data Brief. 2019 Aug. 25:104021. [QxMD MEDLINE Link].

Roman J Nowicki, MD, PhD Professor and Chairman, Department of Dermatology, Venereology and Allergology, Medical University of Gdansk, Poland

Roman J Nowicki, MD, PhD is a member of the following medical societies: American Academy of Dermatology, European Academy of Allergy and Clinical Immunology, European Academy of Dermatology and Venereology, International Society for Human and Animal Mycology, International Society of Dermatology, Polish Dermatological Society, Polish Society of Allergology

Disclosure: Nothing to disclose.

David F Butler, MD Former Section Chief of Dermatology, Central Texas Veterans Healthcare System; Professor of Dermatology, Texas A&M University College of Medicine; Founding Chair, Department of Dermatology, Scott and White Clinic

David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, Association of Military Dermatologists, Phi Beta Kappa, Texas Dermatological Society

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Professor of Pediatrics, Professor of Medicine, Rutgers New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, New York Academy of Medicine, Royal College of Physicians of Edinburgh, Sigma Xi, The Scientific Research Honor Society

Disclosure: Nothing to disclose.

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Jacek C Szepietowski, MD, PhD Professor, Vice-Head, Department of Dermatology, Venereology and Allergology, Wroclaw Medical University; Director of the Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Poland

Disclosure: Received consulting fee from Orfagen for consulting; Received consulting fee from Maruho for consulting; Received consulting fee from Astellas for consulting; Received consulting fee from Abbott for consulting; Received consulting fee from Leo Pharma for consulting; Received consulting fee from Biogenoma for consulting; Received honoraria from Janssen for speaking and teaching; Received honoraria from Medac for speaking and teaching; Received consulting fee from Dignity Sciences for consulting; .

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