Article
Immunology
Miseon Lee, Jeong-Han Seo, Sungjae Song, In Hye Song, Su Yeon Kim, Young-Ae Kim, Gyungyub Gong, Jeong Eun Kim, Hee Jin Lee
Summary: This study compared the accuracy of eight HLA genotyping tools and created a new algorithm combining the results of multiple tools to improve the accuracy of HLA genotyping. The results showed that when at least six tools provided consistent calls, the accuracy and precision of the HLA genotypes were high.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Microbiology
Dana N. Raugi, Robert S. Nixon, Sally Leong, Khadim Faye, Jean Phillipe Diatta, Fatima Sall, Robert A. Smith, ElHadji Ibrahima Sall, Jean Jacques Malomar, Moussa Seydi, Geoffrey S. Gottlieb
Summary: The use of dried blood spots (DBS) for genotypic drug resistance testing for HIV-2 is feasible and can be deployed in resource-limited settings.
JOURNAL OF CLINICAL MICROBIOLOGY
(2021)
Article
Medicine, General & Internal
Namsoo Kim, Sinyoung Kim, Jong Rak Choi, Younhee Park
Summary: This study shared the experience of HLA typing using next-generation sequencing (NGS) in patients with hematologic malignancies and evaluated its association with hematologic diseases. The data from 211 Korean patients with a hematologic disease were reviewed, and NGS was performed for 11 HLA loci. The study found that NGS-based HLA typing enables detailed analysis of the HLA system and identified a specific HLA gene associated with myelodysplastic syndrome.
Article
Immunology
Jielin Wang, Xuan You, Yanmin He, Xiaozhen Hong, Ji He, Sudan Tao, Faming Zhu
Summary: In this study, a high-throughput method was developed for simultaneous genotyping of HLA-A and HLA-B loci, as well as HPA genotyping. The method was found to be accurate and successfully genotyped 204 blood specimens for all 34 HPA systems as well as HLA-A and HLA-B loci. This method provides important genetic information for the treatment of alloimmunization platelet transfusion refractoriness.
FRONTIERS IN IMMUNOLOGY
(2022)
Review
Nanoscience & Nanotechnology
Jin Yang, Hongna Liu, Wenjing Pan, Mengru Song, Yutong Lu, Franklin Wang-Ngai Chow, Polly Hang-Mei Leung, Yan Deng, Masahi Hori, Nongyue He, Song Li
Summary: This article discusses the importance of the major histocompatibility complex (MHC) in humans and the rapid and accurate HLA typing technology established for preventing graft-verses-host disease (GVHD) in organ transplantation. The article also summarizes the most widely used sequencing typing platforms and the latest developments in HLA typing kits.
JOURNAL OF BIOMEDICAL NANOTECHNOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Antonella Romano, Candida Zuchegna, Giuseppa Zannini, Samantha Messina, Clorinda Fusco, Antonio Pezone, Roberta Grillo, Paola de Candia, Giuseppe Matarese, Antonio Porcellini
Summary: This study developed a new method for extracting genomic DNA from dried blood spots (DBS) and evaluated its performance in genotyping mouse models of obesity.
MOLECULAR BIOLOGY REPORTS
(2022)
Article
Genetics & Heredity
Pooja Agrawal, Shanmukh Katragadda, Arun K. Hariharan, Vijayashree Gauribidanur Raghavendrachar, Arunika Agarwal, Rashmi Dayalu, Disha Awasthy, Sanjay C. Sharma, Yasodha Kannan Sivasamy, P. Lakshmana, Ashwini Shanmugam, Vamsi Veeramachaneni, Vaijayanti Gupta, B. P. Vani, Lekha Subaiya, T. S. Syamala, Ramesh Hariharan, Vijay Chandru, David E. Bloom
Summary: DBS samples show similar performance to venous blood samples in whole-genome sequencing, making them a feasible alternative for studies requiring WGS analysis. Various downstream analyses, including mitochondrial heteroplasmy detection and determination of telomere lengths, also showed comparable results between DBS and venous blood samples.
BMC MEDICAL GENOMICS
(2021)
Editorial Material
Cell Biology
Angeliki Xagorari, Maria Zamanakou, Sofia Vatsiou, Anastasios E. Germenis, Damianos Sotiropoulos
Summary: The new alleles A*02:943 and B*51:104:02 were identified in Greek cord blood units.
Editorial Material
Cell Biology
Maria Zamanakou, Sophia Vatsiou, Savvas Stokidis, Sotirios P. Fortis, Anastasios E. Germenis
Summary: Two novel alleles, HLA-A*02:01:193 and -DQA1*02:17, were identified in Greek individuals using NGS technology.
Article
Infectious Diseases
Hongzhi Wang, Xudong Li, Dongxue Wang, Chong Li, Yuanyuan Wang, Youxiang Diao, Yi Tang
Summary: The study identified Candida albicans as the causative pathogen of goose oesophageal ulcers, which showed high morbidity and mortality rates in infected geese. The genetic analysis revealed close relationship between goose-origin C. albicans strains and human-origin isolates, indicating potential zoonotic transmission. The independent evolution of goose-origin C. albicans strains suggests a unique population dynamic, providing important insights for public health and safety measures.
TRANSBOUNDARY AND EMERGING DISEASES
(2022)
Editorial Material
Cell Biology
Marine Cargou, Vincent Elsermans, Isabelle Top, Gwendaline Guidicelli, Jonathan Visentin
Summary: HLA-DQB1*06:385 differs from HLA-DQB1*06:07:01 by one nucleotide substitution at codon 70 in exon 2.
Editorial Material
Cell Biology
Marine Cargou, Marco Andreani, Maria Troiano, Mamy Ralazamahaleo, Jonathan Visentin
Summary: The HLA-DRB3*03:49 gene differs from DRB3*03:01:01:01 by one nucleotide substitution at codon 191 in exon 4.
Editorial Material
Cell Biology
Lucie Blandin, Laura Blouin, Marine Cargou, Richard Lemal, Paul Rouzaire
Summary: HLA-DPB1*1139:01 differs from HLA-DPB1*04:01:01:03 by one nucleotide substitution in codon 15 in exon 2.
Editorial Material
Cell Biology
Marine Cargou, Vincent Elsermans, Isabelle Top, Laura Blouin, Jonathan Visentin
Summary: HLA-A*36:12 differs from HLA-A*36:01:01:01 by a nucleotide substitution at codon 211 in exon 4.
Editorial Material
Cell Biology
Marine Cargou, Marco Andreani, Antonio Giuseppe Bianculli, Laura Blouin, Jonathan Visentin
Summary: HLA-DQA1*03:20 differs from HLA-DQA1*03:03:01:01 by a single nucleotide substitution at codon 33 in exon 2.
Article
Immunology
Geoffrey A. Behrens, Michael Brehm, Rita Gross, Jana Heider, Jurgen Sauter, Daniel M. Baier, Tatjana Wehde, Santina Castriciano, Alexander H. Schmidt, Vinzenz Lange
Summary: This study presents a method to determine cytomegalovirus immunoglobulin G (CMV IgG) serostatus from dried buccal swab samples with high specificity (98.6%) and sensitivity (99.1%). Analysis of 1.2 million samples resulted in age- and sex-stratified CMV prevalence statistics for Germany, Poland, United Kingdom, and Chile. Reassessment of CMV status in 6518 donors using conventional blood samples showed high specificity (96.9%) and sensitivity (97.4%).
JOURNAL OF INFECTIOUS DISEASES
(2021)
Article
Biophysics
Thilo Mengling, Gabi Rall, Stefanie N. Bernas, Nadia Astreou, Sandra Bochert, Torben Boelk, Deborah Buk, Konstanze Burkard, Dennis Endert, Katrin Gnant, Sabine Hildebrand, Hatice Koeksaldi, Isabelle Petit, Juergen Sauter, Susanne Seitz, Julia Stolze, Karin Weber, Maren Weber, Vinzenz Lange, Julia Pingel, Alexander Platz, Thomas Schaefer, Johannes Schetelig, Edith Wienand, Sirko Geist, Elke Neujahr, Alexander H. Schmidt
Summary: The COVID-19 pandemic significantly impacted hematopoietic stem cell donation and transplantation, leading to a decrease in product numbers and the implementation of new management strategies to ensure donor and product safety, while also reducing the number of new donors.
BONE MARROW TRANSPLANTATION
(2021)
Article
Immunology
Feras Alfraih, Moheeb Alawwami, Mahmoud Aljurf, Hind Alhumaidan, Hawazen Alsaedi, Riad El Fakih, Bander Alotaibi, Walid Rasheed, Stefanie N. Bernas, Carolin Massalski, Annett Heidl, Jurgen Sauter, Vinzenz Lange, Alexander H. Schmidt
Summary: This study estimated HLA allele and haplotype frequencies of the Saudi Arabian population, providing insights into stem cell donor matching probabilities and strategic donor registry planning in the Kingdom of Saudi Arabia.
Article
Immunology
J. Sauter, K. Putke, D. Schefzyk, J. Pruschke, U. V. Solloch, S. N. Bernas, C. Massalski, K. Daniel, A. Klussmeier, J. A. Hofmann, V. Lange, A. H. Schmidt
Summary: A cost-efficient workflow for genotyping HLA-E by NGS was developed and applied to more than 2.5 million potential stem cell donors. Results revealed the dominance of E*01:01 and E*01:03 alleles in the majority of populations.
Article
Immunology
Johannes Schetelig, Henning Baldauf, Linda Koster, Michelle Kuxhausen, Falk Heidenreich, Liesbeth C. de Wreede, Stephen Spellman, Michel van Gelder, Benedetto Bruno, Francesco Onida, Vinzenz Lange, Carolin Massalski, Victoria Potter, Per Ljungman, Nicolaas Schaap, Patrick Hayden, Stephanie J. Lee, Nicolaus Kroeger, Kathy Hsu, Alexander H. Schmidt, Ibrahim Yakoub-Agha, Marie Robin
Summary: This study aimed to validate models using KIR genes for donor selection in MDS or sAML patients to reduce the risk of relapse after HCT, but the results show that current models cannot consistently predict overall survival and relapse rates. Further research integrating cutting edge knowledge on KIR genetics and NK-cell biology is warranted for future studies.
FRONTIERS IN IMMUNOLOGY
(2021)
Letter
Medicine, General & Internal
J. Schetelig, H. Baldauf, S. Wendler, F. Heidenreich, R. Real, M. Kolditz, A. Rosner, A. Dalpke, K. deWith, V. Lange, J. Markert, R. Barth, C. Bunzel, D. Endert, J. A. Hofmann, J. Sauter, S. N. Bernas, A. H. Schmidt
JOURNAL OF INTERNAL MEDICINE
(2021)
Article
Cell Biology
Christin Paech, Viviane Albrecht, Kathrin Putke, Gerhard Schoefl, Bianca Schoene, Alexander H. Schmidt, Vinzenz Lange, Anja Klussmeier
Summary: HLA-E, a nonclassical HLA class Ib gene, has lower diversity compared to classical HLA genes. Research on this gene has led to the discovery of numerous new alleles, significantly increasing the number of HLA-E alleles in the database.
Article
Biochemical Research Methods
Steffen Klasberg, Alexander H. Schmidt, Vinzenz Lange, Gerhard Schoefl
Summary: DR2S is an automated workflow designed to create high-quality fully-phased reference allele sequences for highly polymorphic gene regions such as HLA or KIR. It has been used by biologists to successfully characterise and submit more than 500 HLA alleles and more than 500 KIR alleles to the IPD-IMGT/HLA and IPD-KIR databases.
BMC BIOINFORMATICS
(2021)
Letter
Medicine, General & Internal
Johannes Schetelig, Henning Baldauf, Sarah Wendler, Falk Heidenreich, Ruben Real, Martin Kolditz, Andrea Rosner, Alexander Dalpke, Katja de With, Vinzenz Lange, Jan Markert, Ralf Barth, Carolin Bunzel, Dennis Endert, Jan A. Hofmann, Juergen Sauter, Stefanie N. Bernas, Alexander H. Schmidt
DEUTSCHES ARZTEBLATT INTERNATIONAL
(2021)
Letter
Genetics & Heredity
Susanne Seitz, Vinzenz Lange, Paul J. Norman, Jurgen Sauter, Alexander H. Schmidt
INTERNATIONAL JOURNAL OF IMMUNOGENETICS
(2021)
Article
Biochemical Research Methods
Wesley M. Marin, Ravi Dandekar, Danillo G. Augusto, Tasneem Yusufali, Bianca Heyn, Jan Hofmann, Vinzenz Lange, Juergen Sauter, Paul J. Norman, Jill A. Hollenbach
Summary: The complex structure and sequence similarity of KIR genes present challenges to bioinformatic analysis, which were successfully addressed by the highly dynamic alignment workflow and custom processing pipeline of PING, providing a novel workflow for accurate interpretation of KIR short-read sequencing data. Validation on different datasets demonstrated exceptional performance in copy number determination and robust genotype determination, promising high-quality KIR genotyping for disease and population studies.
PLOS COMPUTATIONAL BIOLOGY
(2021)
Article
Immunology
Johannes Schetelig, Falk Heidenreich, Henning Baldauf, Sarah Trost, Bose Falk, Christian Hossbach, Ruben Real, Axel Roers, Dirk Lindemann, Alexander Dalpke, Martin Kolditz, Katja de With, Martin Bornhaeuser, Ezio E. Bonifacio, Elke Ruecker-Braun, Vinzenz Lange, Jan Markert, Ralf Barth, Jan A. Hofmann, Juergen Sauter, Stefanie N. Bernas, Alexander H. Schmidt
Summary: HLA genotype does not play a major role in determining the severity of COVID-19, as indicated by the findings of this study. The spike glycoprotein alone may allow for robust T-cell responses regardless of the HLA genotype.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Genetics & Heredity
Susanne Seitz, Vinzenz Lange, Paul J. Norman, Jurgen Sauter, Alexander H. Schmidt
Summary: In this study, HLA haplotype frequencies were estimated based on individuals homozygous for 4, 5, or 6 loci, and validation using a sample of over 3.4 million German individuals was successful. Although our approach had larger errors compared to an expectation-maximization algorithm, it allowed for the clear detection of rare haplotypes.
INTERNATIONAL JOURNAL OF IMMUNOGENETICS
(2021)
Article
Immunology
Stefanie N. Bernas, Geoffrey A. Behrens, Henning Baldauf, Daniel M. Baier, Heike Fischer, Jens Pruschke, Falk Heidenreich, Katja Ruhner, Jan A. Hofmann, Jan Markert, Johannes Schetelig, Vinzenz Lange, Alexander H. Schmidt
Summary: This study evaluated the success rate of repeating cytomegalovirus (CMV) status analysis and found that approximately 90% of the samples could be successfully determined. Due to the high importance of CMV status in stem cell donor searches, the retesting approach is highly recommended for stem cell donor registries.
TRANSPLANT IMMUNOLOGY
(2022)
Article
Hematology
Falk Heidenreich, Bose Falk, Henning Baldauf, Carolin Massalski, Gesine Schaefer, Elke Ruecker-Braun, Heidi Altmann, Juergen Sauter, Ute V. Solloch, Vinzenz Lange, Friedrich Stoelzel, Christoph Roellig, Jan M. Middeke, Malte von Bonin, Christian Thiede, Kerstin Schaefer-Eckart, Carsten Mueller-Tidow, Stefan W. Krause, Sabrina Kraus, Martin Kaufmann, Mathias Haenel, Hubert Serve, Andreas Neubauer, Martin Bornhaeuser, Alexander H. Schmidt, Johannes Schetelig
Summary: Immunogenetic association studies were conducted to investigate the relationship between killer immunoglobulin-like receptor (KIR) and HLA genotypes and natural killer (NK) cell immunity against acute myeloid leukemia (AML). The study analyzed the genotypes of AML patients and compared them with that of a control group. However, no significant differences were found between the two groups in terms of KIR genotype or receptor-ligand models.
