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- Title
First Successful Allogeneic Hematopoietic Stem Cell Transplantation for MKL1 Deficiency.
- Authors
Oegema, Sanne; Henriet, Stefanie S. V.; van Aerde, Koen J.; Bredius, Robbert G. M.; Berghuis, Dagmar
- Abstract
Author Contribution SVVH and KJvA referred the patient for HSCT and participated in the follow-up of the patient after HSCT; DB enrolled the patient for HSCT and supervised HSCT, interpreted clinical data and organized follow-up of the patient, and wrote the initial draft of the manuscript; RGMB supervised HSCT and interpreted clinical data. Introduction Megakaryoblastic leukemia 1 (MKL1) deficiency was recently identified as a human primary immunodeficiency, due to a pronounced actin polymerization defect and impaired chemotactic response of neutrophils resulting in cytoskeletal dysfunction of predominantly phagocytes. Here, we report the first successful pre-emptive HLA-identical HSCT in an infant with MKL1 deficiency.
- Subjects
HEMATOPOIETIC stem cell transplantation; INFORMED consent (Medical law); CHRONIC wounds &; injuries; CORD blood; EPILEPSY
- Publication
Journal of Clinical Immunology, 2022, Vol 42, Issue 8, p1608
- ISSN
0271-9142
- Publication type
Article
- DOI
10.1007/s10875-022-01336-z