Thirty couples having a DS child were typed for HLA-A and B antigens and compared to twenty control families and 176 blood donors. Although differences in frequency of B antigens exist between DS families and controls, they are not significant after correction for the number of antigens tested. No excessive HLA sharing was found in DS parents contrarily to two previous studies (Mattironi et al. 1981, Aymé et al. 1983).
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http://dx.doi.org/10.1111/j.1399-0039.1985.tb00422.x | DOI Listing |
Hemasphere
March 2025
Department of General Pediatrics and Pediatric Infectious Diseases, Sickle Cell Center, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP) Université Paris Cité Paris France.
Sickle cell disease (SCD) remains associated with reduced life expectancy and poor quality of life despite improvements observed in the last decades mostly related to comprehensive care, use of hydroxycarbamide, screening to identify patients at risk of strokes, and implementation of safe transfusion protocols. The course of the disease is highly variable, making it difficult to predict severity and response to therapy. Allogeneic hematopoietic stem cell transplantation potentially provides a cure with a relatively low rate of complications, but few patients have an HLA-identical sibling.
View Article and Find Full Text PDFTransfusion
March 2025
Department of Obstetrics and Gynecology, University Hospital of Bern, University of Bern, Bern, Switzerland.
Background: Umbilical cord blood (UCB) stem cells can be collected at birth, cryopreserved, and used for transplantation in hematopoietic diseases. Typically, these stem cells are stored in public banks for allogeneic use or in private depositories for potential future utilization by the family. A proposed third option, hybrid cord blood banking, combines elements of both public and private storage.
View Article and Find Full Text PDFClin Exp Rheumatol
March 2025
Department of Joint Surgery, HongHui Hospital, Xi'an Jiaotong University, Xi'an, Shaanxi, China.
Objectives: The genetic underpinnings of RA remain partially elucidated, motivating our exploration of copy number variations (CNV) and rare variations in the pathogenesis of RA.
Methods: We conducted an integrated analysis of the genome-wide landscape of CNV and exome-wide rare variation associations with RA in the UK Biobank. To strengthen our findings, we corroborated the results by the differentially expressed genes identified from gene expression profiles of synovial tissue of RA patients and health controls.
HLA
March 2025
Department of Transplantation Immunology, Maastricht University Medical Center, Maastricht, the Netherlands.
Tumour cells, which are often found in the peripheral blood of patients with acute leukaemia, may harbour multiple somatic alterations throughout the genome, including changes in the HLA region and short tandem repeat (STR) regions. We investigated whether such somatic alterations interfere with HLA and chimerism diagnostics conducted in preparation for an allogeneic haematopoietic stem cell transplantation (allo-HSCT). This study describes 10 patient-based cases for which laboratory diagnostics were performed prior to a possible stem cell transplant in the Maastricht University Medical Center.
View Article and Find Full Text PDFFront Immunol
March 2025
DKMS Group, Tübingen, Germany.
Introduction: In hematopoietic stem cell transplantation, optimal results are achieved when donors and patients are matched regarding their human leukocyte antigen (HLA) genes. Population-specific HLA allele and haplotype frequency distributions determine the probabilities to find matched donors in a stem cell donor registry of given size and ethnic composition.
Methods: To evaluate the needs of Indian patients with regard to future donor recruitment, we analyzed a large data set of =130,518 potential stem cell donors registered with DKMS-BMST, a Bangalore-based donor registry with nationwide donor recruitment activities.
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