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Jeanne Tamarelle, Anne C M Thiébaut, Bénédicte Sabin, Cécile Bébéar, Philippe Judlin, Arnaud Fauconnier, Delphine Rahib, Layidé Méaude-Roufai, Jacques Ravel, Servaas A Morré, Bertille de Barbeyrac, Elisabeth Delarocque-Astagneau
BACKGROUND: Genital infection with Chlamydia trachomatis (Ct) is the most common bacterial sexually transmitted infection, especially among young women. Mostly asymptomatic, it can lead, if untreated, to pelvic inflammatory disease (PID), tubal factor infertility and ectopic pregnancy. Recent data suggest that Ct infections are not controlled in France and in Europe. The effectiveness of a systematic strategy for Ct screening in under-25 women remains controversial. The main objective of the i-Predict trial (Prevention of Diseases Induced by Chlamydia trachomatis) is to determine whether early screening and treatment of 18- to-24-year-old women for genital Ct infection reduces the incidence of PID over 24 months...
November 13, 2017: Trials
Kevin A Henry
Immunogenetic analyses of expressed antibody repertoires are becoming increasingly common experimental investigations and are critical to furthering our understanding of autoimmunity, infectious disease, and cancer. Next-generation DNA sequencing (NGS) technologies have now made it possible to interrogate antibody repertoires to unprecedented depths, typically by sequencing of cDNAs encoding immunoglobulin variable domains. In this chapter, we describe simple, fast, and reliable methods for producing and sequencing multiplex PCR amplicons derived from the variable regions (VH, VHH or VL) of rearranged immunoglobulin heavy and light chain genes using the Illumina MiSeq platform...
2018: Methods in Molecular Biology
Daniela Piancatelli, Imane Ben El Barhdadi, Khadija Oumhani, Pierluigi Sebastiani, Alessia Colanardi, Abdellah Essaid
Genetic and environmental factors are responsible for differences in the prevalence of some diseases across countries. Human leukocyte antigen (HLA) allele frequencies in North African populations show some differences in their distribution compared to Europeans, Mediterraneans, and sub-Saharans, and some specific alleles and haplotypes could be clinically relevant. Celiac disease (CD) has been fast increasing in prevalence in North Africa; but few immunogenetic data are available for this area, in which a high prevalence of the disease has been described...
January 6, 2017: Medical Sciences: Open Access Journal
Maribel Soto-Nava, Santiago Avila-Ríos, Humberto Valenzuela-Ponce, Claudia García-Morales, Jonathan M Carlson, Daniela Tapia-Trejo, Daniela Garrido-Rodriguez, Selma N Alva-Hernández, Thalía A García-Tellez, Akio Murakami-Ogasawara, Simon A Mallal, Mina John, Mark A Brockman, Chanson J Brumme, Zabrina L Brumme, Gustavo Reyes-Teran
HIV circumvents HLA class I-restricted CD8+ T cell responses through selection of escape mutations that leave characteristic mutational "footprints" - also known as HLA-associated polymorphisms (HAPs) - on HIV sequences at the population level. While many HLA footprints are universal across HIV subtypes and human populations, others can be region-specific as a result of the unique immunogenetic background of each host population. Using a published probabilistic phylogenetically-informed model, we compared HAPs in HIV Gag and Pol (PR-RT) in 1,612 subtype B-infected, antiretroviral treatment-naïve individuals from Mexico and 1,641 from Canada/USA...
November 1, 2017: Journal of Virology
Cristina Capittini, Francesco Messina, Fabrizio Puglisi, Maria Azzaro, Sebastiana Toscano, Annalisa De Silvestri, Carmine Tinelli, Grazia Sortino
A geographical stratification of Killer Immunoglobulin-like Receptors (KIR) has been reported worldwide. We first analyzed the distribution of 15 KIR genes in a sample of 50 East-Sicilians (ES). We used a Principal Component Analysis (PCA) to compare the KIR genetic content among ES and 10 modern populations who are descendants of the ancient invaders of Sicily: Spanish, French, Norwegians, Swedes, Finns, Tunisians, Moroccans, Arabs, Greeks, Turks. We also included a sample of Sardinians, and Senegalese (as outliner group)...
October 24, 2017: Human Immunology
M Qrafli, M Najimi, R Elaouad, K Sadki
Tuberculosis (TB) is a serious infectious disease that kills approximately two million people per year, particularly in low- and middle-income countries. Numerous genetic epidemiology studies have been conducted of many ethnic groups worldwide and have highlighted the critical impact of the genetic environment on TB distribution. Many candidate genes associated with resistance or susceptibility to TB have been identified. In Morocco, where TB is still a major public health problem, various observations of clinical, microbiological and incidence distribution are heavily affected by genetic background and external environment...
October 22, 2017: International Journal of Immunogenetics
Xiao-Dong Lian, Xi-He Zhang, Zheng-Xi Dai, Yong-Tang Zheng
The northern pig-tailed macaque (Macaca leonina) has been identified as an independent species from the pig-tailed macaque group. The species is a promising animal model for HIV/AIDS pathogenesis and vaccine studies due to susceptibility to HIV-1. However, the major histocompatibility complex (MHC) genetics in northern pig-tailed macaques remains poorly understood. We have previously studied the MHC class I genes in northern pig-tailed macaques and identified 39 novel alleles. Here, we describe the MHC class II alleles in all six classical loci (DPA, DPB, DQA, DQB, DRA, and DRB) from northern pig-tailed macaques using a sequence-based typing method for the first time...
October 18, 2017: Infection, Genetics and Evolution
Ana E Rodríguez-Vicente, Vasilis Bikos, María Hernández-Sánchez, Jitka Malcikova, Jesús-María Hernández-Rivas, Sarka Pospisilova
The rapid progress in next-generation sequencing technologies has significantly contributed to our knowledge of the genetic events associated with the development, progression and treatment resistance of chronic lymphocytic leukemia patients. Together with the discovery of new driver mutations, next-generation sequencing has revealed an immense degree of both intra- and inter-tumor heterogeneity and enabled us to describe marked clonal evolution. Advances in immunogenetics may be implemented to detect minimal residual disease more sensitively and to track clonal B cell populations, their dynamics and molecular characteristics...
September 19, 2017: Oncotarget
Annalisa De Silvestri, Cristina Capittini, Dimitri Poddighe, Gian Luigi Marseglia, Luca Mascaretti, Elena Bevilacqua, Valeria Scotti, Chiara Rebuffi, Annamaria Pasi, Miryam Martinetti, Carmine Tinelli
Juvenile Idiopathic Arthritis (JIA) is characterized with a variable pattern of articular involvement and systemic symptoms and, thus, it has been classified in several subtypes. Genetic predisposition to JIA is mainly due to HLA class II molecules (HLA-DRB1, HLA-DPB1), although HLA class I molecules and non-HLA genes have been implicated, too. Here, we carried out a meta-analysis including selected studies designed to assess HLA genetic background of JIA patients, compared to healthy controls; particularly, we focused our attention on HLA-DRB1...
October 14, 2017: Autoimmunity Reviews
Xiao-Dong Lian, Xi-He Zhang, Zheng-Xi Dai, Yong-Tang Zheng
The northern pig-tailed macaque (Macaca leonina) has been considered as an independent species from the pig-tailed macaque group. We have previously reported that this species macaque has the potential to be a useful animal model in HIV/AIDS pathogenesis and vaccine studies due to its susceptibility to HIV-1. To develop this animal into a potential HIV/AIDS model, we have studied the classical MHC genes of this animal. In this study, the non-classical MHC genes Malo-DM and Malo-DO alleles were first characterized by sequencing and cloning in 12 unrelated northern pig-tailed macaques...
October 13, 2017: Immunogenetics
Mario Andrés Quintana-Duque, Federico Rondon-Herrera, Enrique Calvo-Paramo, Juan Jose Yunis, Adriana Varela-Nariño, Antonio Iglesias-Gamarra
The ojective of this study is to assess the effect of tobacco smoking on disease activity, functional ability, and joint damage in a cohort of patients with early onset rheumatoid arthritis (EORA). 129 EORA patients attending the Rheumatology Unit of the School of Medicine of the "Universidad Nacional de Colombia" and the "Clínica de Artritis y Rehabilitación" in Bogota, Colombia, were enrolled in a prospective observational cohort study with 3-year follow-up. Clinical, biological, immunogenetics, and radiographic data were analyzed...
December 2017: Rheumatology International
Moneeza K Siddiqui, Cyrielle Maroteau, Abirami Veluchamy, Aleksi Tornio, Roger Tavendale, Fiona Carr, Ngu-Uma Abelega, Dan Carr, Katyrzyna Bloch, Par Hallberg, Qun-Ying Yue, Ewan R Pearson, Helen M Colhoun, Andrew D Morris, Eleanor Dow, Jacob George, Munir Pirmohamed, Paul M Ridker, Alex S F Doney, Ana Alfirevic, Mia Wadelius, Anke-Hilse Maitland-van der Zee, Daniel I Chasman, Colin N A Palmer
Aims: A genetic variant in LILRB5 (leukocyte immunoglobulin-like receptor subfamily-B) (rs12975366: T > C: Asp247Gly) has been reported to be associated with lower creatine phosphokinase (CK) and lactate dehydrogenase (LDH) levels. Both biomarkers are released from injured muscle tissue, making this variant a potential candidate for susceptibility to muscle-related symptoms. We examined the association of this variant with statin intolerance ascertained from electronic medical records in the GoDARTS study...
August 29, 2017: European Heart Journal
Nikolaus Deigendesch, Werner Stenzel
Pathogen-induced inflammatory diseases mostly involving, but sometimes exclusively affecting, the central nervous system (CNS) manifest with a plethora of signs and symptoms. The different diseases are still difficult to cure despite modern diagnostic, preventive, and therapeutic advances, and this is mainly due to the host inflammatory response, leading to irreversible tissue damage. Knowledge about underlying pathomechanisms is constantly growing, and numerous studies on humans, human material, and animal models as well as in vitro systems have considerably increased our understanding of molecular mechanisms; however, there are still enormous uncertainties with respect to host-pathogen interaction and treatment...
2017: Handbook of Clinical Neurology
Eleftheria Polychronidou, Aliki Xochelli, Panagiotis Moschonas, Stavros Papadopoulos, Anastasia Hatzidimitriou, Panayiotis Vlamos, Kostas Stamatopoulos, Dimitrios Tzovaras
Somatic Hypermutation (SHM) load in the immunoglobulin heavy variable (IGHV) gene of the clonotypic B cell receptor immunoglobulin (BcR IG) is one of the most important prognostic markers in CLL, segregating patients into two distinct categories, with contrariwise disease course. Over the last years, immunogenetic studies have identified that ∼30% of CLL patients carry (quasi)identical BcR IG and thus can be assigned to different subsets with distinct clinicobiological profiles. This characterization was achieved by applying rules mainly concerning the diversity of the VH complementarity determining region 3 (CDR3)...
2017: Advances in Experimental Medicine and Biology
Daria V Babushok, Jamie L Duke, Hongbo M Xie, Natasha Stanley, Jamie Atienza, Nieves Perdigones, Peter Nicholas, Deborah Ferriola, Yimei Li, Hugh Huang, Wenda Ye, Jennifer J D Morrissette, Jane Kearns, David L Porter, Gregory M Podsakoff, Laurence C Eisenlohr, Jaclyn A Biegel, Stella T Chou, Dimitrios S Monos, Monica Bessler, Timothy S Olson
Acquired aplastic anemia (aAA) is an acquired deficiency of early hematopoietic cells, characterized by inadequate blood production, and a predisposition to myelodysplastic syndrome (MDS) and leukemia. Although its exact pathogenesis is unknown, aAA is thought to be driven by Human Leukocyte Antigen (HLA)-restricted T cell immunity, with earlier studies favoring HLA class II-mediated pathways. Using whole exome sequencing (WES), we recently identified two aAA patients with somatic mutations in HLA class I genes...
October 10, 2017: Blood Advances
Fei Yu, He Song, Yanling Wu, So Young Chang, Lili Wang, Wei Li, Binbin Hong, Shuai Xia, Chunyu Wang, Surender Khurana, Yang Feng, Yanping Wang, Zhiwu Sun, Biao He, Dongni Hou, Jody Manischewitz, Lisa R King, Yuanlin Song, Ji-Young Min, Hana Golding, Xinhua Ji, Lu Lu, Shibo Jiang, Dimiter S Dimitrov, Tianlei Ying
The H7N9 influenza virus causes high-mortality disease in humans but no effective therapeutics are available. Here we report a human monoclonal antibody, m826, that binds to H7 hemagglutinin (HA) and protects against H7N9 infection. m826 binds to H7N9 HA with subnanomolar affinity at acidic pH and 10-fold lower affinity at neutral pH. The high-resolution (1.9 Å) crystal structure of m826 complexed with H7N9 HA indicates that m826 binds an epitope that may be fully exposed upon pH-induced conformational changes in HA...
October 11, 2017: Cell Host & Microbe
Rebecca Pavlos, Katie D White, Celestine Wanjalla, Simon A Mallal, Elizabeth J Phillips
Adverse drug reactions (ADRs) are a significant source of patient morbidity and mortality and represent a major burden to health care systems and drug development. Up to 50% of such reactions are preventable. Although many ADRs can be predicted based on the on-target pharmacologic activity, ADRs arising from drug interactions with off-target receptors are recognized. Off-target ADRs include the immune-mediated ADRs (IM-ADRs) and pharmacologic drug effects. In this review, we discuss what is known about the immunogenetics and pathogenesis of IM-ADRs and the hypothesized role of heterologous immunity in the development of IM-ADRs...
November 2017: Immunology and Allergy Clinics of North America
Aissam El-Aliani, My Abdelaziz El Alaoui, Imane Chaoui, My Mustapha Ennaji, Mohammed Attaleb, Mohammed El Mzibri
HPV L1 protein is a corner stone in HPV structure, it's involved in the formation of the viral capsid; widely used as a systematic material and considered as the main component in vaccines development and production. The present study aims to characterize genetic variation of L1 gene of HPV 16 specimens and to evaluate in silico the impact of major variants on the epitope change affecting its conformational structure. A fragment of L1 gene from 35 HPV 16 confirmed specimens were amplified by PCR and sequenced...
2017: Bioinformation
Andreas Agathangelidis, Aliki Xochelli, Kostas Stamatopoulos
Associations between immunoglobulin (IG) receptors with distinctive immunogenetic features and particular gene mutations are a recurring theme in mature B-cell lymphomas. Relevant observations have been made in chronic lymphocytic leukemia (CLL), where gene mutations are distributed asymmetrically in cases bearing or not somatic hypermutations within the clonotypic immunoglobulin heavy chain variable region (IGHV) genes (e.g. TP53 mutations predominate in IG-unmutated CLL, whereas the opposite is seen for MYD88 mutations, enriched in IG-mutated CLL) and in subsets of cases with stereotyped IG (enrichment for SF3B1 mutations in CLL subset #2)...
September 11, 2017: Journal of Pathology
S Cohen-Woods, H L Fisher, D Ahmetspahic, K Douroudis, D Stacey, G M Hosang, A Korszun, M Owen, N Craddock, V Arolt, U Dannowski, G Breen, I W Craig, A Farmer, B T Baune, C M Lewis, R Uher, P McGuffin
Major depressive disorder (MDD) is a prevalent disorder with moderate heritability. Both MDD and interpersonal adversity, including childhood maltreatment, have been consistently associated with elevated inflammatory markers. We investigated interaction between exposure to childhood maltreatment and extensive genetic variation within the inflammation pathway (CRP, IL1b, IL-6, IL11, TNF, TNFR1, and TNFR2) in relation to depression diagnosis. The discovery RADIANT sample included 262 cases with recurrent DSM-IV/ICD-10 MDD, and 288 unaffected controls...
August 31, 2017: Brain, Behavior, and Immunity
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