The importance of the HLA gene system in haematopoietic cell transplant outcomes was established early on and advances in both fields have led to ever increasing success of this clinical therapy. In large part, improvements in the understanding of HLA have been driven by the advancement in typing technologies. Each iteration of typing technology has improved the resolution of HLA typing, and often enabled the identification of polymorphism within the HLA loci. The discovery of the enormous amount of variation in the HLA genes, and the need to be able to characterise this for clinical HLA typing, has often resulted in a move away from one typing method to another more suited to typing of this complexity. Today, the gold standard for HLA typing are methods that can produce definitive HLA typing results.
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http://dx.doi.org/10.1016/j.beha.2024.101562 | DOI Listing |
Gene
January 2025
Pediatric Department, University Hospital "Mother Teresa", Tirana, Albania. Electronic address:
White-Sutton syndrome (WHSUS) is a rare neurodevelopmental disorder caused by heterozygous variants in the POGZ gene. With slightly over 100 reported cases, the diagnosis of WHSUS remains challenging due to its variable and non-specific clinical features. We report a novel case of WHSUS carrying a heterozygous de novo variant in the POGZ gene and with characteristic clinical features including global developmental delay, autism spectrum disorder, generalised myoclonic epilepsy, hypotonia and distinct dysmorphic features.
View Article and Find Full Text PDFPLoS Comput Biol
January 2025
Laboratoire de physique de l'École Normale Supérieure, CNRS, PSL University, Sorbonne Université, and Université de Paris, Paris, France.
T cells recognize a wide range of pathogens using surface receptors that interact directly with peptides presented on major histocompatibility complexes (MHC) encoded by the HLA loci in humans. Understanding the association between T cell receptors (TCR) and HLA alleles is an important step towards predicting TCR-antigen specificity from sequences. Here we analyze the TCR alpha and beta repertoires of large cohorts of HLA-typed donors to systematically infer such associations, by looking for overrepresentation of TCRs in individuals with a common allele.
View Article and Find Full Text PDFBull Cancer
January 2025
Department of Respiratory and Critical Care Medicine, Baoji High-Tech Hospital, Baoji, 721000 Shaanxi, China. Electronic address:
Background: Lung adenocarcinoma (LUAD) is the most prevalent histological subtype of lung cancer. Pyroptosis is a programmatic cell death linked to inflammation.
Methods: The data information of 541 LUAD samples and 59 normal samples were obtained from TCGA database.
Transpl Int
January 2025
Department of Nephrology, University Hospital Zurich, Zurich, Switzerland.
Zhongguo Shi Yan Xue Ye Xue Za Zhi
December 2024
Department of Blood Transfusion, The Second Hospital of Shandong University, Jinan 250033, Shandong Province, China.
Objective: To analyze the type and distribution characteristics of irregular antibodies in 71 847 hospitalized patients who prepared to accept blood transfusion, and to explore their role in safe blood transfusion.
Methods: 71 847 patients who applied for red blood transfusion from January 2020 to October 2023 were selected. All specimens were screened and identified for the irregular antibody by microcolumn gel antiglobulin technique.
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