Successful unrelated cord blood transplantation for chronic granulomatous disease: A case report and review of the literature

Abstract

CGD is a rare inherited immunodeficiency disorder that is caused by disability of oxidative killing. We presented a two-yr-old boy with CGD who was suffering from multiple systemic abscesses. He received the first BMT from his HLA-haploidentical mother after conditioning with Flu, melphalan, and ATG. Although the maximum of 42% donor chimerism was achieved, it disappeared 73 days after the BMT. Then, we performed 5/6-matched unrelated cord blood re-transplantation after conditioning with Flu, Bu, and TBI (2 Gy). Engraftment and complete donor chimerism were achieved on days 18 and 19, respectively. The patient is now free from infection and maintains complete donor chimerism without GVHD 36 months after the cord blood re-transplantation. We postulate that the unrelated CBT has a potential to be an alternative strategy and might be beneficial for patients with CGD who do not have an HLA-identical donor.

Successful unrelated donor cord blood transplantation for chronic granulomatous disease

“…Additionally, gene-replacement therapy for patients lacking a suitable stem cell donor is still experimental and faces major obstacles and risks [7,8]. However, there are only a few reports on HSCT from alternative donors for patients with CGD who do not have HLA-identical related and unrelated donors [3,4,9,10].…”

Defining umbilical cord blood stem cells

“…Furthermore, transplantation with HLA-mismatched cord blood samples shows a lower risk of graft-versus-host diseases (GvHD) in comparison with bone marrow transplantation. This is also attributed to the fact that the cells transplanted from umbilical cord blood are more naïve and have lower (HLA) protein expression than adults stem cells including bone marrow stem cells [59,[64][65][66]. In addition, umbilical cord blood transplantation was shown to be associated with a lower risk of infection transmission in comparison with bone marrow transplantation [67].…”

Advances in the diagnosis and treatment of chronic granulomatous disease

“…Unrelated cord blood transplantation can be a promising alternative strategy in patients lacking such donor. There are four cases of successful cord blood transplantation for CGD in the literature using only four out of six or five out of six HLA-matched unrelated cords [58].…”