What is the role of HSCT in the treatment of pediatric chronic granulomatous disease (CGD)?

Updated: Aug 07, 2019
  • Author: Lawrence C Wolfe, MD; Chief Editor: Cameron K Tebbi, MD  more...
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HSCT is the only curative therapeutic modality currently available for this disease.

At least 24 patients who have undergone HSCT for chronic granulomatous disease were reported to the International Bone Marrow Transplant Registry of the Center for International Blood and Marrow Transplant Research (CIBMTR). Several case reports of successful HSCTs are published in the literature. [20]

Because of the paucity of transplantations performed to date, meaningful assessment of the likelihood of successful outcome after HSCT in chronic granulomatous disease cannot be made.

A study by Yonkof et al for the United States Immunodeficiency Network reported that transplant-related survival improved in patients with chronic granulomatous disease who underwent allogeneic HSCT at age 14 years or younger (93% vs 82% at 60 months posttransplant). In the total patient group, however, the procedure was not found to improve overall survival. [21]

Anecdotal experience suggests that engraftment of 10-20% normal donor phagocytes may be sufficient for a clinically significant benefit.

Transplantation with matched sibling bone marrow or cord blood is likely to be most successful if performed in infancy or early childhood, when the risk of death from infection or graft versus host disease is minimal. However, even under these circumstances, a small but finite risk of mortality from HSCT is noted. This risk has led to reluctance among treating physicians in recommending or using this therapeutic procedure.

A study by Marsh et al indicated that allogeneic hematopoietic stem cell transplantation (HSCT) is curative for IBD associated with chronic granulomatous disease (CGD). The investigators reported that by 2 years posttransplant, IBD had resolved in all surviving evaluable patients in the study with a history of the condition. [22]

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