Successful Haematopoietic Stem Cell Transplantation for LRBA Deficiency with Fludarabine, Treosulfan, and Thiotepa-Based Conditioning.
Vidarabine
/ analogs & derivatives
Humans
Hematopoietic Stem Cell Transplantation
/ methods
Busulfan
/ analogs & derivatives
Transplantation Conditioning
/ methods
Thiotepa
/ therapeutic use
Male
Female
Infant
Child, Preschool
Graft vs Host Disease
/ etiology
Child
Retrospective Studies
Treatment Outcome
Lymphoproliferative Disorders
/ etiology
Graft vs host disease
Haematopoietic stem cell transplantation
Infectious complications
LRBA deficiency
Journal
Journal of clinical immunology
ISSN: 1573-2592
Titre abrégé: J Clin Immunol
Pays: Netherlands
ID NLM: 8102137
Informations de publication
Date de publication:
12 Sep 2024
12 Sep 2024
Historique:
received:
04
01
2024
accepted:
19
07
2024
medline:
12
9
2024
pubmed:
12
9
2024
entrez:
12
9
2024
Statut:
epublish
Résumé
LRBA deficiency is an inborn error of immunity defined by autoimmunity, lymphoproliferation, recurrent infections, cytopenia, and inflammatory bowel disease. Despite recent advances in managing this disease with targeted biologic therapy, haematopoietic stem cell transplant (HSCT) remains the only cure. However, great variability exists between protocols used to transplant patients with LRBA deficiency. We describe a cohort of seven patients with LRBA deficiency who underwent HSCT using a myeloablative, reduced toxicity regime of fludarabine, treosulfan, and thiotepa at two transplantation centres from 2016 to 2019. Data were collected both retrospectively and prospectively, measuring time to engraftment, infectious complications, incidence of graft versus host disease, and post-transplantation chimerism. Six of seven patients survived transplantation, and four of six surviving patients achieving treatment-free survival. We thus recommend that HSCT with fludarabine, treosulfan, and thiotepa-based conditioning be considered in patients with LRBA deficiency.
Identifiants
pubmed: 39264459
doi: 10.1007/s10875-024-01770-1
pii: 10.1007/s10875-024-01770-1
doi:
Substances chimiques
Vidarabine
FA2DM6879K
Busulfan
G1LN9045DK
treosulfan
CO61ER3EPI
fludarabine
P2K93U8740
Thiotepa
905Z5W3GKH
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
3Informations de copyright
© 2024. The Author(s).
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