Publications by authors named "Anna-Maria Ewins"
Background: Cytotoxic T-lymphocyte antigen 4 (CTLA-4) insufficiency causes a primary immune regulatory disorder characterized by lymphoproliferation, dysgammaglobulinemia, and multiorgan autoimmunity including cytopenias and colitis.
Objective: We examined the outcome of hematopoietic stem cell transplantation (HSCT) for CTLA-4 insufficiency and study the impact of pre-HSCT CTLA-4 fusion protein (CTLA-4-Ig) therapy and pre-HSCT immune dysregulation on survival and immunologic outcome.
Methods: This was a retrospective study of HSCT for CTLA-4 insufficiency and 2q33.
Article Synopsis
- - This study investigated the effects of hematopoietic stem cell transplantation (HSCT) in children using either bone marrow (BM) or peripheral blood stem cells (PBSC) after conditioning with alemtuzumab, focusing on the risks of severe acute and chronic graft-versus-host disease (GVHD).
- - In a multicenter analysis of 397 children, it was found that the PBSC group had a higher incidence of grade II-IV acute GVHD (31%) compared to the BM group (19%), but the incidence of severe (grade III-IV) GVHD was similar for both groups.
- - The research suggested that using alemtuzumab for T cell depletion and specific prophylaxis strategies may reduce GVHD
Dyskeratosis congenita (DC) is an inherited bone-marrow-failure disorder characterized by a triad of mucocutaneous features that include abnormal skin pigmentation, nail dystrophy, and oral leucoplakia. Despite the identification of several genetic variants that cause DC, a significant proportion of probands remain without a molecular diagnosis. In a cohort of eight independent DC-affected families, we have identified a remarkable series of heterozygous germline variants in the gene encoding thymidylate synthase (TYMS).
View Article and Find Full Text PDFExtracorporeal photopheresis (ECP) is a second-line therapy in acute and chronic GVHD and solid organ transplant rejection. We report ECP use in 98 pediatric patients in seven UK centers from 2010 to 2017, the majority treated for aGVHD (73.5%).
View Article and Find Full Text PDFChronic granulomatous disease (CGD) can be cured by allogeneic hemopoietic stem cell transplantation (HSCT). Complications include graft failure, graft-versus-host disease (GVHD), infection, and transplant-related mortality; therefore, reduced-intensity conditioning regimens are being used to improve outcomes. In this retrospective study, the aim was to determine the outcome of treosulfan-based conditioning in HSCT for pediatric patients with CGD.
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