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Immunogenetics

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https://www.readbyqxmd.com/read/28416603/high-throughput-immunogenetics-for-clinical-and-research-applications-in-immunohematology-potential-and-challenges
#1
Anton W Langerak, Monika Brüggemann, Frédéric Davi, Nikos Darzentas, Jacques J M van Dongen, David Gonzalez, Gianni Cazzaniga, Véronique Giudicelli, Marie-Paule Lefranc, Mathieu Giraud, Elizabeth A Macintyre, Michael Hummel, Christiane Pott, Patricia J T A Groenen, Kostas Stamatopoulos
Analysis and interpretation of Ig and TCR gene rearrangements in the conventional, low-throughput way have their limitations in terms of resolution, coverage, and biases. With the advent of high-throughput, next-generation sequencing (NGS) technologies, a deeper analysis of Ig and/or TCR (IG/TR) gene rearrangements is now within reach, which impacts on all main applications of IG/TR immunogenetic analysis. To bridge the generation gap from low- to high-throughput analysis, the EuroClonality-NGS Consortium has been formed, with the main objectives to develop, standardize, and validate the entire workflow of IG/TR NGS assays for 1) clonality assessment, 2) minimal residual disease detection, and 3) repertoire analysis...
April 17, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28416602/antigen-receptor-galaxy-a-user-friendly-web-based-tool-for-analysis-and-visualization-of-t-and-b-cell-receptor-repertoire-data
#2
Hanna IJspeert, Pauline A van Schouwenburg, David van Zessen, Ingrid Pico-Knijnenburg, Andrew P Stubbs, Mirjam van der Burg
Antigen Receptor Galaxy (ARGalaxy) is a Web-based tool for analyses and visualization of TCR and BCR sequencing data of 13 species. ARGalaxy consists of four parts: the demultiplex tool, the international ImMunoGeneTics information system (IMGT) concatenate tool, the immune repertoire pipeline, and the somatic hypermutation (SHM) and class switch recombination (CSR) pipeline. Together they allow the analysis of all different aspects of the immune repertoire. All pipelines can be run independently or combined, depending on the available data and the question of interest...
April 17, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28416435/omics-and-cytokine-discovery-in-fish-presenting-the-yellowtail-kingfish-seriola-lalandi-as-a-case-study
#3
Gregory Jacobson, Simon Muncaster, Koen Mensink, Maria Forlenza, Nick Elliot, Grant Broomfield, Beth Signal, Steve Bird
A continued programme of research is essential to overcome production bottlenecks in any aquacultured fish species. Since the introduction of genetic and molecular techniques, the quality of immune research undertaken in fish has greatly improved. Thousands of species specific cytokine genes have been discovered, which can be used to conduct more sensitive studies to understand how fish physiology is affected by aquaculture environments or disease. Newly available transcriptomic technologies, make it increasingly easier to study the immunogenetics of farmed species for which little data exists...
April 14, 2017: Developmental and Comparative Immunology
https://www.readbyqxmd.com/read/28396093/what-s-new-about-oral-treatments-in-multiple-sclerosis-immunogenetics-still-under-question
#4
REVIEW
Cristiana Pistono, Cecilia Osera, Chiara Boiocchi, Giulia Mallucci, Mariaclara Cuccia, Roberto Bergamaschi, Alessia Pascale
Multiple Sclerosis (MS) is a chronic pathology affecting the Central Nervous System characterized by inflammatory processes that lead to demyelination and neurodegeneration. In MS treatment, disease modifying therapies (DMTs) are essential to reduce disease progression by suppressing the inflammatory response responsible for promoting lesion formation. Recently, in addition to the classical injectable DMTs like Interferons and Glatiramer acetate, new orally administered drugs have been approved for MS therapy: dimethyl fumarate, teriflunomide and fingolimod...
April 8, 2017: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/28394398/genetic-variants-of-ppar-gamma-coactivator-1b-augment-nlrp3-mediated-inflammation-in-gouty-arthritis
#5
Wan-Chun Chang, Yeong-Jian Jan Wu, Wen-Hung Chung, Yun-Shien Lee, See-Wen Chin, Ting-Jui Chen, Yu-Sun Chang, Der-Yuan Chen, Shuen-Iu Hung
Objective.: Gout is characterized by recurrent attacks of arthritis with hyperuricaemia and urate crystal-induced inflammation. Although urate transporters are known as risk factors, the immunogenetics of gouty inflammation remains unclear. This study aimed to investigate the genetic association between immune/metabolism regulators and gout. Methods.: We enrolled 448 gout patients and 943 population controls from Taiwan; all were Han Chinese. We screened association between gout and 22 variants of candidate genes, including NLRP3 , caspase 1, peroxisome proliferator-activated receptor-γ, proliferator-activated receptor-γ coactivator 1α ( PPARGC1A ) and 1β ( PPARGC1B )...
March 1, 2017: Rheumatology
https://www.readbyqxmd.com/read/28388241/chagas-disease-immunogenetics-elusive-markers-of-disease-progression
#6
Yelenca Ortega Zamora, Leidy Johana Escamilla Rojas, Elvis Mayron Villa Sandoval, Joan Steven Vela Porras, Edgar Yarleison Cossio Contrera, Sergio Sebastian Cubides Romero, Pedro David Carreño Ramirez, Hermes Urriago Losada, Carolina De Los Rios, Daniela Alejandra Gomez Mahecha, Karen Daniela Lovera Serrano, Juan Carlos Barreto Montaña, Viviana Lorena Narvaez Caicedo, Fredy Rs Gutierrez
Chagas disease (CD) is caused by a parasitic infection. The disease usually occurs after decades of the primary infection and can involve the myocardium or the digestive system. Of note, around 30% of T. cruzi infected patients develop CD while the other 70% may remain asymptomatic for their entire life. CD is usually observed as familial clustered phenomena. Moreover, individuals with chronic Chagas heart disease (CCHD) usually present a strong, deregulated immune response, which strongly suggests an immunogenetic effect...
April 7, 2017: Expert Review of Cardiovascular Therapy
https://www.readbyqxmd.com/read/28374494/immunogenetic-profiling-of-23-snps-of-cytokine-and-chemokine-receptor-genes-through-a-minisequencing-technique-design-development-and-validation
#7
J M Valverde-Villegas, R M de Medeiros, S E M Almeida, J A B Chies
The minisequencing technique offers accuracy and robustness to genotyping of polymorphic DNA variants, being an excellent option for the identification and analyses of prognostic/susceptibility markers in human diseases. Two multiplex minisequencing assays were designed and standardized to screen 23 candidate SNPs in cytokine, chemokine receptor and ligand genes previously associated with susceptibility to cancer and autoimmune disorders as well as to infectious diseases outcome. The SNPs were displayed in two separate panels (panel 1-IL2 rs2069762, TNFα rs1800629, rs361525; IL4 rs2243250; IL6 rs1800795; IL10 rs1800896, rs1800872; IL17A rs8193036, rs2275913 and panel 2-CCR3 rs309125, CCR4 rs6770096, rs2228428; CCR6 rs968334; CCR8 rs2853699; CXCR3 rs34334103, rs2280964;CXCR6 rs223435, rs2234358; CCL20 rs13034664, rs6749704; CCL22 rs4359426; CXCL10/IP-10 rs3921, rs56061981)...
April 4, 2017: International Journal of Immunogenetics
https://www.readbyqxmd.com/read/28370771/toll-like-receptor-variation-in-the-bottlenecked-population-of-the-seychelles-warbler-computer-simulations-see-the-ghost-of-selection-past-and-quantify-the-drift-debt
#8
Danielle Gilroy, Karl Phillips, David S Richardson, Cock van Oosterhout
Balancing selection can maintain immunogenetic variation within host populations, but detecting its signal in a post-bottlenecked population is challenging due to the potentially overriding effects of drift. Toll-like receptor genes (TLRs) play a fundamental role in vertebrate immune defence and are predicted to be under balancing selection. We previously characterised variation at TLR loci in the Seychelles warbler (Acrocephalus sechellensis), an endemic passerine that has undergone a historical bottleneck...
March 28, 2017: Journal of Evolutionary Biology
https://www.readbyqxmd.com/read/28340809/corrected-panel-reactive-antibody-positivity-rates-for-hypersensitized-patients-in-turkish-population-with-calculated-panel-reactive-antibody-software
#9
S T Karadeniz, S U Akgul, Y Ogret, H S Ciftci, A Bayraktar, H Bakkaloglu, Y Caliskan, K Yelekci, A Turkmen, A E Aydin, F S Oguz, M Carin, F Aydin
INTRODUCTION: High rates of panel-reactive antibody (PRA) may decrease the chance of kidney transplantation and may result in long waiting periods before transplantation. The calculated PRA (cPRA) is performed based on unacceptable HLA antigens. These antigens are identified by a program that was created based on the antibodies that developed against the HLA antigens circulating in serum and on the risk of binding of these antibodies to antigens. The antigen profile of the population and antigen frequencies can be measured, and more realistic cPRA positivity rates may be obtained using this method...
April 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/28332559/the-immunogenetics-of-narcolepsy-associated-with-a-h1n1-pdm09-vaccination-pandemrix-supports-a-potent-gene-environment-interaction
#10
I L Bomfim, F Lamb, K Fink, A Szakács, A Silveira, L Franzén, V Azhary, M Maeurer, N Feltelius, N Darin, T Hallböök, L Arnheim-Dahlström, I Kockum, T Olsson
The influenza A(H1N1)pdm09 vaccination campaign from 2009 to 2010 was associated with a sudden increase in the incidence of narcolepsy in several countries. Narcolepsy with cataplexy is strongly associated with the human leukocyte antigen (HLA) class II DQB1*06:02 allele, and protective associations with the DQB1*06:03 allele have been reported. Several non-HLA gene loci are also associated, such as common variants of the T-cell receptor-α (TRA), the purinergic receptor P2RY11, cathepsin H (CTSH) and TNFSF4/OX40L/CD252...
March 23, 2017: Genes and Immunity
https://www.readbyqxmd.com/read/28326889/aquaporin-4-autoimmunity-in-patients-with-systemic-lupus-erythematosus-a-predominantly-population-based-study
#11
Nasrin Asgari, Sven Jarius, Helle Laustrup, Hanne Pb Skejoe, Soeren T Lillevang, Brian G Weinshenker, Anne Voss
BACKGROUND: Serum immunoglobulin G targeting the astrocyte water channel aquaporin-4 (AQP4) in the central nervous system (CNS) is a biomarker for neuromyelitis optica spectrum disease (NMOSD). Co-existence of NMOSD with systemic lupus erythematosus (SLE) putatively suggests susceptibility to antibody-mediated autoimmune disease. OBJECTIVE: To estimate the prevalence of NMOSD in SLE and investigate the immunogenetic background for an association of NMOSD and SLE...
March 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28280748/cervical-carcinogenesis-and-immune-response-gene-polymorphisms-a-review
#12
REVIEW
Akash M Mehta, Merel Mooij, Ivan Branković, Sander Ouburg, Servaas A Morré, Ekaterina S Jordanova
The local immune response is considered a key determinant in cervical carcinogenesis after persistent infection with oncogenic, high-risk human papillomavirus (HPV) infections. Genetic variation in various immune response genes has been shown to influence risk of developing cervical cancer, as well as progression and survival among cervical cancer patients. We reviewed the literature on associations of immunogenetic single nucleotide polymorphism, allele, genotype, and haplotype distributions with risk and progression of cervical cancer...
2017: Journal of Immunology Research
https://www.readbyqxmd.com/read/28271567/the-welsh-blood-service-70-years-of-continuous-change
#13
REVIEW
G D Poole
The National Blood Transfusion Service (NBTS) in England and Wales was established as a single entity in 1946 and operated as such for almost half a century. During those 50 years, the blood service in Wales, as in the rest of the UK, saw many technological and operational changes. The automation of donation testing, the introduction of successive layers of microbiological screening, the creation of the Tissue Typing Laboratory (later renamed the Welsh Transplantation and Immunogenetics Laboratory) and the development of information technology brought - over a relatively long period - highly significant improvements to an organisation that had begun life as an Emergency Medical Service...
March 8, 2017: Transfusion Medicine
https://www.readbyqxmd.com/read/28270810/a-novel-model-on-dst-induced-transplantation-tolerance-by-the-transfer-of-self-specific-donor-ttregs-to-a-haplotype-matched-organ-recipient
#14
Angelica Maria Mohr Gregoriussen, Henrik Georg Bohr
Donor-specific blood transfusion (DST) can lead to significant prolongation of allograft survival in experimental animal models and sometimes human recipients of solid organs. The mechanisms responsible for the beneficial effect on graft survival have been a topic of research and debate for decades and are not yet fully elucidated. Once we discover how the details of the mechanisms involved are linked, we could be within reach of a procedure making it possible to establish donor-specific tolerance with minimal or no immunosuppressive medication...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28244954/increased-hiv-1-superinfection-risk-in-carriers-of-specific-human-leukocyte-antigen-alleles
#15
Jouni Vesa, Antoine Chaillon, Gabriel A Wagner, Christy M Anderson, Douglas D Richman, Davey M Smith, Susan J Little
OBJECTIVE: To characterize the demographic, behavioral, clinical, and immunogenetic determinants of HIV-1 superinfection (SI) in a high-risk cohort of men who have sex with men (MSM). DESIGN: Retrospective cohort study of prospectively followed MSM. METHODS: Ninety-eight MSM with acute or early HIV-1 monoinfection (MI) were followed for a median of 15.6 months. Demographic and human leukocyte antigen (HLA) genotype data were collected at enrollment...
February 27, 2017: AIDS
https://www.readbyqxmd.com/read/28225833/influence-of-hla-class-i-hla-class-ii-and-kirs-on-vertical-transmission-and-chronicity-of-hepatitis-c-virus-in-children
#16
A Ruiz-Extremera, E J Pavón-Castillero, M Florido, P Muñoz de Rueda, J A Muñoz-Gámez, J Casado, A Carazo, R Quiles, S M Jiménez-Ruiz, A Gila, J D Luna, J León, J Salmerón
BACKGROUND & AIM: There is evidence that maternal viral load of HCV during delivery influences the risk for Mother-to-child transmission (MTCT), but this does not explain all cases. We study the role of the immunogenetic profile (HLA, KIRs and KIR-ligand binding) of mothers and children in HCV-MTCT and in chronicity in the children. METHODOLOGY: 79 HCV-RNA (+) mothers and their 98 children were included. 24 children were infected, becoming chronic in 8 cases and clearing in 16...
2017: PloS One
https://www.readbyqxmd.com/read/28220663/three-new-hla-alleles-b-49-43-c-03-321-and-dqb1-02-72
#17
J Street, L Williams, T Climer, C Harvey, C Darke
Immunogenetic information is provided on 3 novel HLA-B, -C and -DQB1 alleles.
April 2017: HLA
https://www.readbyqxmd.com/read/28214377/reciprocal-translocation-of-small-numbers-of-inbred-individuals-rescues-immunogenetic-diversity
#18
Catherine E Grueber, Jolene T Sutton, Sol Heber, James V Briskie, Ian G Jamieson, Bruce C Robertson
Genetic rescue can reduce inbreeding depression and increase fitness of small populations, even when the donor populations are highly inbred. In a recent experiment involving two inbred island populations of the New Zealand South Island robin, Petroica australis, reciprocal translocations improved microsatellite diversity and individual fitness. While microsatellite loci may reflect patterns of genome-wide diversity, they generally do not indicate the specific genetic regions responsible for increased fitness...
February 18, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28195089/immunogenetics-of-chronic-lymphocytic-leukemia
#19
Nikhil Patkar, Nikhil Rabade, Pratibha Amare Kadam, Falguni Mishra, Aditi Muranjan, Prashant Tembhare, Shruti Chaudhary, Swapnali Joshi, Hasmukh Jain, Uma Dangi, Bhausaheb Bagal, Navin Khattry, Hari Menon, Sumeet Gujral, Manju Sengar, P G Subramanian
INTRODUCTION: Cytogenetic aberrations as well as presence of IGVH mutations are the underlying reason for clinical heterogeneity in Chronic Lymphocytic Leukemia (CLL). The presence of IGVH mutations as well as the predominant gene usage shows geographical variations. However, there is no study from India addressing immunogenetics of CLL. In a first Indian study we document the immunogenetics of CLL in a large tertiary hospital. METHODS: We analyzed IGVH mutation status, VH gene usage, cytogenetic abnormalities using FISH, immunophenotyping data and correlated them with standard clinical variables in 84 patients of CLL...
January 2017: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/28176894/autoimmune-hepatitis-current-challenges-and-future-prospects
#20
REVIEW
Yoshio Aizawa, Atsushi Hokari
Autoimmune hepatitis (AIH) is a chronic progressive liver disease characterized by high levels of aminotransferases and autoantibodies, hypergammaglobulinemia, and interface hepatitis. AIH affects all races and all ages worldwide, regardless of sex, although a preponderance of females is a constant finding. The etiology of AIH has not been completely elucidated, but immunogenetic background and environmental parameters may contribute to its development. The most important genetic factor is human leukocyte antigens (HLAs), especially HLA-DR, whereas the role of environmental factors is not completely understood...
2017: Clinical and Experimental Gastroenterology
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