Pediatric Chronic Granulomatous Disease Questions & Answers

1. von Rosenvinge EC, O'Donnell TG, Holland SM, Heller T. Chronic granulomatous disease. Inflamm Bowel Dis. 2009 Mar 25. [QxMD MEDLINE Link].

2. Lent-Schochet D, Jialal I. Chronic Granulomatous Disease. StatPearls. 2021 Jan. [QxMD MEDLINE Link]. [Full Text].

3. Thomsen IP, Smith MA, Holland SM, Creech CB. A Comprehensive Approach to the Management of Children and Adults With Chronic Granulomatous Disease. J Allergy Clin Immunol Pract. 2016 May 10. [QxMD MEDLINE Link].

4. Ko SH, Rhim JW, Shin KS, Hahn YS, Lee SY, Kim JG. Genetic analysis of CYBB gene in 26 korean families with X-linked chronic granulomatous disease. Immunol Invest. 2014. 43(6):585-94. [QxMD MEDLINE Link].

5. Ben-Ari J, Wolach O, Gavrieli R, Wolach B. Infections associated with chronic granulomatous disease: linking genetics to phenotypic expression. Expert Rev Anti Infect Ther. 2012 Aug. 10(8):881-94. [QxMD MEDLINE Link].

6. Vining M, Sharma N, Guill M. Atypical presentation of chronic granulomatous disease with Burkholderia cepacia. BMJ Case Rep. 2014 Aug 6. 2014:[QxMD MEDLINE Link].

7. Roos D, Kuhns DB, Maddalena A, et al. Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update). Blood Cells Mol Dis. 2010 Apr 15. 44(4):291-9. [QxMD MEDLINE Link].

8. van den Berg JM, van Koppen E, Ahlin A, et al. Chronic granulomatous disease: the European experience. PLoS One. 2009. 4 (4):e5234. [QxMD MEDLINE Link]. [Full Text].

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

10. Xu H, Tian W, Li SJ, Zhang LY, Liu W, Zhao Y, et al. Clinical and molecular features of 38 children with chronic granulomatous disease in mainland china. J Clin Immunol. 2014 Aug. 34(6):633-41. [QxMD MEDLINE Link].

11. Jones LB, McGrogan P, Flood TJ, Gennery AR, Morton L, Thrasher A. 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. [QxMD MEDLINE Link].

12. Cole T, McKendrick F, Titman P, Cant AJ, Pearce MS, Cale CM, et al. Health Related Quality of Life and Emotional Health in Children with Chronic Granulomatous Disease: A Comparison of Those Managed Conservatively with Those That Have Undergone Haematopoietic Stem Cell Transplant. J Clin Immunol. 2012 Aug 12. [QxMD MEDLINE Link].

13. Ahlin A, Fasth A. Chronic granulomatous disease - conventional treatment vs. hematopoietic stem cell transplantation: an update. Curr Opin Hematol. 2014 Nov 12. [QxMD MEDLINE Link].

14. Shigemura T, Nakazawa Y, Hirabayashi K, Kobayashi N, Sakashita K, Agematsu K, et al. Dramatic Improvement in the Multifocal Positron Emission Tomography Findings of a Young Adult with Chronic Granulomatous Disease Following Allogeneic Hematopoietic Stem Cell Transplantation. J Clin Immunol. 2014 Nov 4. [QxMD MEDLINE Link].

15. 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. [QxMD MEDLINE Link].

16. Walsh TJ, Anaissie EJ, Denning DW, et al. Treatment of aspergillosis: clinical practice guidelines of the Infectious Diseases Society of America. Clin Infect Dis. 2008 Feb 1. 46(3):327-60. [QxMD MEDLINE Link].

17. Sfaihi L, Maaloul I, Fourati H, Stasia MJ, Mnif Z, Hachicha M. Resistant Invasive Aspergillosis in an Autosomal Recessive Chronic Granulomatous Disease. Fetal Pediatr Pathol. 2012 Sep 24. [QxMD MEDLINE Link].

18. 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].

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

20. 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].

21. Miki M, Ono A, Awaya A, et al. Successful bone marrow transplantation in chronic granulomatous disease. Pediatr Int. 2009 Dec. 51(6):838-41. [QxMD MEDLINE Link].

22. Yanagimachi M, Kato K, Iguchi A, et al. Hematopoietic Cell Transplantation for Chronic Granulomatous Disease in Japan. Front Immunol. 2020. 11:1617. [QxMD MEDLINE Link]. [Full Text].

23. Yonkof JR, Gupta A, Fu P, et al. Role of Allogeneic Hematopoietic Stem Cell Transplant for Chronic Granulomatous Disease (CGD): a Report of the United States Immunodeficiency Network. J Clin Immunol. 2019 May. 39 (4):448-458. [QxMD MEDLINE Link].

24. Marsh RA, Leiding JW, Logan BR, et al. Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT. J Clin Immunol. 2019 Aug 2. [QxMD MEDLINE Link].

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

26. Feingold PL, Quadri HS, Steinberg SM, et al. Thoracic Surgery in Chronic Granulomatous Disease: a 25-Year Single-Institution Experience. J Clin Immunol. 2016 Aug 6. [QxMD MEDLINE Link].

27. Liese JG, Jendrossek V, Jansson A, et al. Chronic granulomatous disease in adults. Lancet. 1996 Jan 27. 347(8996):220-3. [QxMD MEDLINE Link].

Lawrence C Wolfe, MD Associate Chief for Hematology and Safety, Division of Pediatric Hematology-Oncology, Cohen Children's Medical Center

Lawrence C Wolfe, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Association of Blood Banks, American Society of Hematology, Children's Oncology Group, Eastern Society for Pediatric Research

Disclosure: Nothing to disclose.

Elisa Keefe, MD Fellow, Department of Pediatric Hematology and Oncology, Cohen Children’s Medical Center and Feinstein Institute for Medical Research, Northshore Long Island Jewish Health System

Disclosure: Nothing to disclose.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

James L Harper, MD Associate Professor, Department of Pediatrics, Division of Hematology/Oncology and Bone Marrow Transplantation, Associate Chairman for Education, Department of Pediatrics, University of Nebraska Medical Center; Associate Clinical Professor, Department of Pediatrics, Creighton University School of Medicine; Director, Continuing Medical Education, Children's Memorial Hospital; Pediatric Director, Nebraska Regional Hemophilia Treatment Center

James L Harper, MD is a member of the following medical societies: American Society of Pediatric Hematology/Oncology, American Federation for Clinical Research, Council on Medical Student Education in Pediatrics, Hemophilia and Thrombosis Research Society, American Academy of Pediatrics, American Association for Cancer Research, American Society of Hematology

Disclosure: Nothing to disclose.

Cameron K Tebbi, MD Director, Children's Cancer Research Group Laboratories

Cameron K Tebbi, MD is a member of the following medical societies: International Society of Pediatric Oncology

Disclosure: Nothing to disclose.

Sharada A Sarnaik, MBBS Professor of Pediatrics, Wayne State University School of Medicine; Director, Sickle Cell Center, Associate Hematologist/Oncologist, Children's Hospital of Michigan

Sharada A Sarnaik, MBBS is a member of the following medical societies: American Society of Hematology, American Society of Pediatric Hematology/Oncology, New York Academy of Sciences, Society for Pediatric Research, Children's Oncology Group, American Academy of Pediatrics, Midwest Society for Pediatric Research

Disclosure: Nothing to disclose.

The authors and editors of eMedicine gratefully acknowledge the contributions of previous authors Naynesh R Kamani, MD, and Kevin J Curran, MD, to the original writing and development of this article.

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