Publications by authors named "Daniel Schefzyk"

Donor age is one factor to optimize allogeneic hematopoietic cell transplantation (alloHCT). Therefore, we investigated whether young unrelated donors (UD) provide a benefit for older patients with myeloid malignancies compared to HLA-identical sibling donors (MSD). We performed a retrospective registry study on patients ≥50 years who received a first alloHCT between 2010 and 2020.

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Article Synopsis
  • MICA is a stress-induced ligand that activates NK and T cell responses, playing a crucial role in anti-tumor immunity.
  • The study found high frequencies of duplications (1%) and deletions (0.4%) of the MICA gene across over two million individuals, with significant variations among different ethnic groups, reaching up to 9.2% in Mexico.
  • The findings suggest that these copy number variations result from independent recombination events and highlight the need for more research on their potential links to diseases, particularly in cancer studies.
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The Genotype List (GL) String grammar for reporting HLA and Killer-cell Immunoglobulin-like Receptor (KIR) genotypes in a text string was described in 2013. Since this initial description, GL Strings have been used to describe HLA and KIR genotypes for more than 40 million subjects, allowing these data to be recorded, stored and transmitted in an easily parsed, text-based format. After a decade of working with HLA and KIR data in GL String format, with advances in HLA and KIR genotyping technologies that have fostered the generation of full-gene sequence data, the need for an extension of the GL String system has become clear.

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The impact of the highly polymorphic Killer-cell immunoglobulin-like receptor () gene cluster on the outcome of hematopoietic stem cell transplantation (HCST) is subject of current research. To further understand the involvement of this gene family into Natural Killer (NK) cell-mediated graft-versus-leukemia reactions, knowledge of haplotype structures, and allelic linkage is of importance. In this analysis, we estimate population-specific haplotype frequencies at allele group resolution in a cohort of = 458 German families.

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MICA and MICB are ligands of the NKG2D receptor and thereby influence NK and T cell activity. gene polymorphisms, expression levels and the amount of soluble MICA/B in the serum have been linked to autoimmune diseases, infections, and cancer. In hematopoietic stem cell transplantation, matching between donor and patient has been correlated with reduced acute and chronic graft-vs.

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A catalog of common, intermediate and well-documented (CIWD) HLA-A, -B, -C, -DRB1, -DRB3, -DRB4, -DRB5, -DQB1 and -DPB1 alleles has been compiled from over 8 million individuals using data from 20 unrelated hematopoietic stem cell volunteer donor registries. Individuals are divided into seven geographic/ancestral/ethnic groups and data are summarized for each group and for the total population. P (two-field) and G group assignments are divided into one of four frequency categories: common (≥1 in 10 000), intermediate (≥1 in 100 000), well-documented (≥5 occurrences) or not-CIWD.

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The killer-cell immunoglobulin-like receptor () genes regulate natural killer cell activity, influencing predisposition to immune mediated disease, and affecting hematopoietic stem cell transplantation (HSCT) outcome. Owing to the complexity of the locus, with extensive gene copy number variation (CNV) and allelic diversity, high-resolution characterization of has so far been applied only to relatively small cohorts. Here, we present a comprehensive high-throughput genotyping approach based on next generation sequencing.

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