Successful Haploidentical Bone Marrow Transplantation Of An Infant With A Novel Mutation In Samd9l Gene (ataxia-pancytopenia Syndrome)
Journal of Pediatric Hematology/Oncology
Data regarding the outcomes of hematopoietic stem cell transplant (HSCT) for the management of SAMD9L-associated ataxia-pancytopenia syndrome remains limited. We depict the case of a 2-month-old male with a novel mutation in the SAMD9L gene, presenting with respiratory failure, pancytopenia and severe developmental delay. He experienced graft failure 2 months after a 4/6 HLA-matched cord HSCT. At 9 months old, an unsuccessful unrelated donor search prompted a haploidentical HSCT with successful engraftment. He sustains excellent donor chimerism and has improved developmentally over 2 years posttransplant. This case demonstrates haploidentical HSCT as a viable option for patients with SAMD9L mutation and no acceptable unrelated donor.
Alicea Marrero, Minelys M.; Español, María; Marrero-Rivera, Gisela; Bauchat, Andrea; Cruz, Valerie; Yu, Lolie; and Leblanc, Zachary, "Successful Haploidentical Bone Marrow Transplantation Of An Infant With A Novel Mutation In Samd9l Gene (ataxia-pancytopenia Syndrome)" (2022). School of Medicine Faculty Publications. 559.