Reviving Immunity: Hematopoietic Stem Cell Transplantation in Chronic Granulomatous Disease

Neelam Gomez^*
*Correspondence: Neelam Gomez, Department of Paediatrics, Istanbul University-Cerrahpaşa, 34098 Istanbul, Turkey, Email:

Keywords

Chronic Granulomatous Disease (CGD) • Hematopoietic Stem Cell Transplantation (HSCT) • Immunodeficiency • Phagocyte dysfunction • Graft-versus-host disease (GVHD)

Introduction

Chronic Granulomatous Disease (CGD) stands as a rare but lifealtering inherited immunodeficiency disorder, characterized by dysfunctional phagocytes that impair the body's innate immune response. Affected individuals find themselves trapped in a perpetual battle against recurrent and often severe infections, making the pursuit of effective therapies a medical imperative [1]. Hematopoietic Stem Cell Transplantation (HSCT) has emerged as a promising curative approach for CGD, offering the tantalizing prospect of reinvigorating the immune system. This review embarks on a journey through the clinical application of HSCT in CGD, spanning the historical evolution and contemporary practices of this transformative procedure. It delves into the intricacies of HSCT, examining the complexities of risk assessment, donor selection, the management of Graft-Versus-Host Disease (GVHD), conditioning regimens and the critical role of long-term follow-up in assessing patient outcomes. In the midst of these considerations, the review highlights the significance of HSCT as a potentially curative avenue for CGD, serving as a beacon of hope for patients and healthcare providers. Yet, it also underscores the necessity of ongoing research and the imperative for multidisciplinary collaboration to ensure the optimal care of individuals grappling with this lifealtering condition [2].

Literature Review

The historical trajectory of Hematopoietic Stem Cell Transplantation (HSCT) for Chronic Granulomatous Disease (CGD) mirrors the evolution of medical science's understanding and capacity to address severe immunodeficiency disorders. Over the years, HSCT has emerged as a potentially curative approach to CGD. Initial attempts at allogeneic HSCT met with limited success due to high mortality rates and graft rejection [3]. However, advancements in transplant techniques, particularly the refinement of donor selection and conditioning regimens, have significantly improved outcomes. Donor selection remains a pivotal consideration in CGD-related HSCT. Compatibility, both in terms of Human Leukocyte Antigen (HLA) matching and graft availability, plays a critical role in the success of the procedure. Moreover, the management of Graft-Versus-Host Disease (GVHD), a common complication, requires meticulous monitoring and intervention to ensure a favorable outcome. In recent years, gene therapy has emerged as a promising alternative to allogeneic HSCT, offering the potential to correct the genetic defect responsible for CGD. Initial results are encouraging, although long-term follow-up and further research are essential to confirm the durability of the treatment [4].

Discussion

The study delves into the multifaceted challenges and considerations surrounding HSCT in CGD. Notably, risk assessment is a critical aspect that shapes the decision-making process for patients and healthcare providers. The risk of HSCT-related complications must be weighed against the potential benefits, emphasizing the need for individualized treatment plans. Donor selection is another complex issue. Identifying a suitable donor, whether from a sibling or unrelated donor and ensuring optimal compatibility are pivotal. The choice between allogeneic HSCT and gene therapy depends on factors such as disease severity and the patient's clinical condition. Conditioning regimens, which prepare the recipient for stem cell infusion, also play a vital role in the success of HSCT. Balancing the intensity of conditioning with potential side effects is a delicate process that necessitates careful consideration [5,6].

Conclusion

Hematopoietic Stem Cell Transplantation (HSCT) represents a beacon of hope for individuals grappling with Chronic Granulomatous Disease (CGD). The historical progression of HSCT for CGD has witnessed significant improvements in patient outcomes, driven by advancements in donor selection, conditioning regimens and the management of Graft-Versus-Host Disease (GVHD). Additionally, the advent of gene therapy offers a promising alternative to allogeneic HSCT, providing an opportunity to correct the genetic defect responsible for CGD. However, the success of HSCT in CGD is not without its complexities. Risk assessment, donor selection and individualized treatment planning are paramount. The choice between HSCT and gene therapy hinges on a multitude of factors and a personalized approach is essential. Furthermore, conditioning regimens must strike a balance between efficacy and potential side effects. The journey of HSCT in CGD is a testament to the remarkable progress in medical science, offering new hope and transformative potential for individuals with this debilitating immunodeficiency disorder. Continued research and multidisciplinary collaboration remain critical in ensuring the optimal care and outcomes of CGD patients.

Acknowledgement

None.

Conflict of Interest

There are no conflicts of interest by author.

References

1. Bridges, Robert A., Heinz Berendes and Robert A. Good. "A fatal granulomatous disease of childhood: The clinical, pathological and laboratory features of a new syndrome." AMA Am J Dis Child 97 (1959): 387-408.

Google Scholar, Crossref, Indexed at

2. Tangye, Stuart G., Waleed Al-Herz, Aziz Bousfiha and Charlotte Cunningham-Rundles, et al. "Human inborn errors of immunity: 2022 update on the classification from the International union of immunological societies expert committee." J Clin Immunol 42 (2022): 1473-1507.

Google Scholar, Crossref, Indexed at

3. Salvator, Hélène, Nizar Mahlaoui, Emilie Catherinot and Elisabeth Rivaud, et al. "Pulmonary manifestations in adult patients with chronic granulomatous disease." Eur Respir J 45 (2015): 1613-1623.

Google Scholar, Crossref, Indexed at

4. Marciano, Beatriz E., Christine Spalding, Alan Fitzgerald and Daphne Mann, et al. "Common severe infections in chronic granulomatous disease." Clin Infect Dis 60 (2015): 1176-1183.

Google Scholar, Crossref, Indexed at

5. Jones, L. B. K. R., P. McGrogan, T. J. Flood and A. R. Gennery, et al. "Chronic granulomatous disease in the United Kingdom and Ireland: A comprehensive national patient-based registry." Clin Exp Immunol 152 (2008): 211-218.

Google Scholar, Crossref, Indexed at

6. Mouy, R., A. Fischer, E. Vilmer and R. Seger, et al. "Incidence, severity and prevention of infections in chronic granulomatous disease." J Pediatr 114 (1989): 555-560.
 

Google Scholar, Crossref, Indexed at