Successful Haploidentical Bone Marrow Transplantation Of An Infant With A Novel Mutation In Samd9l Gene (ataxia-pancytopenia Syndrome)
Document Type
Article
Publication Date
10-1-2022
Publication Title
Journal of Pediatric Hematology/Oncology
Abstract
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.
First Page
419
Last Page
420
PubMed ID
36054901
Volume
44
Issue
7
Recommended Citation
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.
https://digitalscholar.lsuhsc.edu/som_facpubs/559