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Immunogenetics

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https://www.readbyqxmd.com/read/29757583/what-immunological-defects-predispose-to-non-tuberculosis-mycobacterial-infections
#1
Esmaeil Mortaz, Milad Moloudizargari, Mohammad Varahram, Mehrnaz Movassaghi, Johan Garssen, Mehdi Kazempour Dizagie, Mehdi Mirsaeidi, Ian M Adcock
Nontuberculous mycobacteria (NTM) are categorized as one of the large and diverse groups of environmental organisms which are abundant in water and soil.  NTM cause a variety of diseases in humans that mainly affect the lung. A predisposition to pulmonary NTM is evident in patients with parenchymal structural diseases including bronchiectasis, emphysema, tuberculosis (TB), cystic fibrosis (CF), rheumatologic lung diseases and other chronic diseases with pulmonary manifestations. Lung infections are not the only consequences of being infected by NTM as they can also infect skin and soft tissue and may also cause lymphadenitis (predominantly in young children) and disseminated disease in human immunodeficiency virus (HIV)-infected patients or those with severely compromised immune system...
April 2018: Iranian Journal of Allergy, Asthma, and Immunology
https://www.readbyqxmd.com/read/29745250/genetic-differentiation-in-a-sample-from-northern-mexico-city-detected-by-hla-system-analysis-impact-in-the-study-of-population-immunogenetics
#2
Eva D Juárez Cortés, Miguel A Contreras Sieck, Agustín J Arriaga Perea, Rosa M Macías Medrano, Anaí Balbuena Jaime, Paola Everardo Martínez, Joaquín Zúñiga, Víctor Acuña Alonzo, Julio Granados, Rodrigo Barquera
The major histocompatibility complex is directly involved in the immune response, and thus the genes coding for its proteins are useful markers for the study of genetic diversity, susceptibility to disease (autoimmunity and infections), transplant medicine, and pharmacogenetics, among others. The polymorphism of the system also allows researchers to use it as a proxy for population genetics analysis, such as genetic admixture and genetic structure. In order to determine the immunogenetic characteristics of a sample from the northern part of Mexico City and to use them to analyze the genetic differentiation from other admixed populations, including those from previous studies of Mexico City population, we analyzed molecular typing results of donors and patients from the Histocompatibility Laboratory of the Central Blood Bank of the Centro Médico Nacional La Raza selected according to their geographic origin...
July 2017: Human Biology
https://www.readbyqxmd.com/read/29722814/whole-genome-de-novo-sequencing-reveals-unique-genes-that-contributed-to-the-adaptive-evolution-of-the-mikado-pheasant
#3
Chien-Yueh Lee, Ping-Han Hsieh, Li-Mei Chiang, Amrita Chattopadhyay, Kuan-Yi Li, Yi-Fang Lee, Tzu-Pin Lu, Liang-Chuan Lai, En-Chung Lin, Hsinyu Lee, Shih-Torng Ding, Mong-Hsun Tsai, Chien-Yu Chen, Eric Y Chuang
Background: The Mikado pheasant (Syrmaticus mikado) is a nearly endangered species indigenous to high-altitude regions of Taiwan. This pheasant provides an opportunity to investigate evolutionary processes following geographic isolation. Currently, the genetic background and adaptive evolution of the Mikado pheasant remain unclear. Results: We present the draft genome of the Mikado pheasant, which consists of 1.04 Gb of DNA and 15,972 annotated protein-coding genes...
May 1, 2018: GigaScience
https://www.readbyqxmd.com/read/29722176/accreditation-of-histocompatibility-and-immunogenetics-laboratories-achievements-and-future-prospects-from-the-european-federation-for-immunogenetics-accreditation-program
#4
REVIEW
A Harmer, L Mascaretti, E Petershofen
The importance of demonstrating adherence to good practice in the provision of clinical services is well recognised and there are many legislative and regulatory requirements which aim to ensure that services are appropriately reviewed and certified. Therefore, for regulatory purposes laboratories must provide assurance of the quality of the services they provide. Additionally in the field of transplantation, where donor organs and stem cells are exchanged across national boundaries, adoption of a common set of standards by laboratories across many different countries is an important factor...
May 2, 2018: HLA
https://www.readbyqxmd.com/read/29701842/the-emerging-immunogenetic-architecture-of-schizophrenia
#5
Jennie G Pouget
Schizophrenia is a severe psychiatric disorder of complex etiology. Immune processes have long been proposed to contribute to the development of schizophrenia, and accumulating evidence supports immune involvement in at least a subset of cases. In recent years, large-scale genetic studies have provided new insights into the role of the immune system in this disease. Here, we provide an overview of the immunogenetic architecture of schizophrenia based on findings from genome-wide association studies (GWAS). First, we review individual immune loci identified in secondary analyses of GWAS, which implicate over 30 genes expressed in both immune and brain cells...
April 26, 2018: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/29696366/genetic-interaction-between-two-insulin-dependent-diabetes-susceptibility-loci-idd2-and-idd13-in-determining-immunoregulatory-dn-t-cell-proportion
#6
Roxanne Collin, Kathy Doyon, Victor Mullins-Dansereau, Martin Karam, Geneviève Chabot-Roy, Erin E Hillhouse, Alexandre Orthwein, Sylvie Lesage
Several immune regulatory cell types participate in the protection against autoimmune diseases such as autoimmune diabetes. Of these immunoregulatory cells, we and others have shown that peripheral CD4- CD8- double negative (DN) T cells can induce antigen-specific immune tolerance. Particularly, we have described that diabetes-prone mice exhibit a lower number of peripheral DN T cells compared to diabetes-resistant mice. Identifying the molecular pathways that influence the size of the DN T cell pool in peripheral lymphoid organs may thus be of interest for maintaining antigen-specific immune tolerance...
April 25, 2018: Immunogenetics
https://www.readbyqxmd.com/read/29669518/irprofiler-a-software-toolbox-for-high-throughput-immune-receptor-profiling
#7
Christos Maramis, Athanasios Gkoufas, Anna Vardi, Evangelia Stalika, Kostas Stamatopoulos, Anastasia Hatzidimitriou, Nicos Maglaveras, Ioanna Chouvarda
BACKGROUND: The study of the huge diversity of immune receptors, often referred to as immune repertoire profiling, is a prerequisite for diagnosis, prognostication and monitoring of hematological disorders. In the era of high-throughput sequencing (HTS), the abundance of immunogenetic data has revealed unprecedented opportunities for the thorough profiling of T-cell receptors (TR) and B-cell receptors (BcR). However, the volume of the data to be analyzed mandates for efficient and ease-to-use immune repertoire profiling software applications...
April 18, 2018: BMC Bioinformatics
https://www.readbyqxmd.com/read/29667788/abstracts-for-the-32nd-european-immunogenetics-and-histocompatibility-conference-and-the-25th-annual-meeting-of-the-italian-society-for-immunogenetics-and-transplantation-biology-aibt-venice-lido-italy-may-9-12-2018
#8
https://www.readbyqxmd.com/read/29574260/hla-typing-using-genome-wide-data-reveals-susceptibility-types-for-infections-in-a-psychiatric-disease-enriched-sample
#9
Samuel Parks, Dimitrios Avramopoulos, Jennifer Mulle, John McGrath, Ruihua Wang, Fernando S Goes, Karen Conneely, Ingo Ruczinski, Robert Yolken, Ann E Pulver, Brad D Pearce
BACKGROUND: The infections Toxoplasma gondii (T. gondii), cytomegalovirus, and Herpes Simplex Virus Type 1 (HSV1) are common persistent infections that have been associated with schizophrenia and bipolar disorder. The major histocompatibility complex (MHC, termed HLA in humans) region has been implicated in these infections and these mental illnesses. The interplay of MHC genetics, mental illness, and infection has not been systematically examined in previous research. METHODS: In a cohort of 1636 individuals, we used genome-wide association data to impute 7 HLA types (A, B, C, DRB1, DQA1, DQB1, DPB1), and combined this data with serology data for these infections...
March 21, 2018: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/29545792/coupling-of-single-molecule-long-read-sequencing-with-imgt-highv-quest-analysis-expedites-identification-of-siv-gp140-specific-antibodies-from-scfv-phage-display-libraries
#10
Seung Yub Han, Alesia Antoine, David Howard, Bryant Chang, Woo Sung Chang, Matthew Slein, Gintaras Deikus, Sofia Kossida, Patrice Duroux, Marie-Paule Lefranc, Robert P Sebra, Melissa L Smith, Ismael Ben F Fofana
The simian immunodeficiency virus (SIV)/macaque model of human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome pathogenesis is critical for furthering our understanding of the role of antibody responses in the prevention of HIV infection, and will only increase in importance as macaque immunoglobulin (IG) gene databases are expanded. We have previously reported the construction of a phage display library from a SIV-infected rhesus macaque ( Macaca mulatta ) using oligonucleotide primers based on human IG gene sequences...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29544193/autoimmune-and-immunogenetic-profile-of-patients-with-optic-neuritis-in-a-population-based-cohort
#11
K Soelberg, A C Nilsson, C Nielsen, S Jarius, M Reindl, B Wildemann, S T Lillevang, N Asgari
BACKGROUND: Optic neuritis (ON) is an inflammatory optic neuropathy, where the genetic and autoimmune dependency remains poorly characterized. OBJECTIVE: To investigate autoimmune and immunogenetic aspects of ON. METHOD: In a prospective population-based cohort 51 patients with ON were included. At follow up 20 patients had progressed to multiple sclerosis (MS-ON). All patients were screened for neuronal and systemic autoantibodies. HLA genotypes and allele and genotype frequencies of the PTPN22 C1858T and the PD-1...
March 7, 2018: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/29494646/optimization-of-culture-conditions-for-the-derivation-and-propagation-of-baboon-papio-anubis-induced-pluripotent-stem-cells
#12
Christopher S Navara, Shital Chaudhari, John R McCarrey
Induced pluripotent stem cells (iPSCs) offer the possibility of cell replacement therapies using patient-matched cells to treat otherwise intractable diseases and debilitations. To successfully realize this potential, several factors must be optimized including i) selection of the appropriate cell type and numbers to transplant, ii) determination of the means of transplantation and the location into which the transplanted cells should be delivered, and iii) demonstration of the safety and efficacy of the cell replacement protocol to mitigate each targeted disease state...
2018: PloS One
https://www.readbyqxmd.com/read/29492600/lymphoma-like-monoclonal-b-cell-lymphocytosis-in-a-patient-population-biology-natural-evolution-and-differences-from-cll-like-clones
#13
Sam Vander Meeren, Bert Heyrman, Wim Renmans, Marleen Bakkus, Brigitte Maes, Hendrik De Raeve, Rik Schots, Kristin Jochmans
High-count monoclonal B cell lymphocytosis (MBL) with a chronic lymphocytic leukemia (CLL) phenotype is a well-known entity, featuring 1-4% annual risk of progression towards CLL requiring treatment. Lymphoma-like MBL (L-MBL), on the other hand, remains poorly defined and data regarding outcome are lacking. We retrospectively evaluated 33 L-MBL cases within our hospital population and compared them to 95 subjects with CLL-like MBL (C-MBL). Diagnoses of L-MBL were based on asymptomatic B cell clones with Matutes score < 3, B cells < 5...
February 28, 2018: Annals of Hematology
https://www.readbyqxmd.com/read/29491034/tuberculosis-and-lung-damage-from-epidemiology-to-pathophysiology
#14
REVIEW
Shruthi Ravimohan, Hardy Kornfeld, Drew Weissman, Gregory P Bisson
A past history of pulmonary tuberculosis (TB) is a risk factor for long-term respiratory impairment. Post-TB lung dysfunction often goes unrecognised, despite its relatively high prevalence and its association with reduced quality of life. Importantly, specific host and pathogen factors causing lung impairment remain unclear. Host immune responses probably play a dominant role in lung damage, as excessive inflammation and elevated expression of lung matrix-degrading proteases are common during TB. Variability in host genes that modulate these immune responses may determine the severity of lung impairment, but this hypothesis remains largely untested...
March 31, 2018: European Respiratory Review: An Official Journal of the European Respiratory Society
https://www.readbyqxmd.com/read/29480216/anti-hmgcr-myopathy
#15
Payam Mohassel, Andrew L Mammen
Anti-HMGCR myopathy was first recognized and characterized in patients with a history of statin exposure and immune-mediated necrotizing myopathy. After the discovery of anti-HMGCR autoantibodies, several international groups identified and characterized more patients, expanding the phenotypic spectrum of this disease to include pediatric patients and young adults without statin exposure and those with a chronic myopathy resembling limb-girdle muscular dystrophy. We provide a summary of clinical findings, pathologic features, muscle imaging, and immunogenetic risk factors of the disease...
2018: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29411437/influence-of-immunogenetics-sex-and-body-condition-on-the-cutaneous-microbial-communities-of-two-giant-salamanders
#16
Obed Hernández-Gómez, Jeffrey T Briggler, Rod N Williams
The complex association between hosts and microbial symbionts requires the implementation of multiple approaches to evaluate variation in host physiology. Within amphibians, heterogeneity in immunogenetic traits and cutaneous microbiota is associated with variation in disease resistance. Ozark (Cryptobranchus alleganiensis bishopi) and eastern hellbenders (C. a. alleganiensis) provide a model system to assess variation in host traits and microbial communities. Ozark hellbenders have experienced declines throughout their range, are federally endangered and experience wound retardation that is absent in the eastern subspecies...
February 7, 2018: Molecular Ecology
https://www.readbyqxmd.com/read/29407001/subacute-sclerosing-panencephalitis-and-immune-thrombocytopenia-more-than-a-coincidence
#17
I Oncel, S Saltik, B Anlar
Subacute sclerosing panencephalitis (SSPE) is a progressive disease caused by persistent measles virus (MV). It has an incidence of 0.4-2.0/million in Turkey. Immune thrombocytopenia (ITP) is a bleeding disorder whose estimated incidence is 4.2/100.000 person/years in the pediatric age group. We observed three cases with ITP in our cohort of 315 pediatric SSPE cases, an incidence higher than coincidentally expected in the general population. We hypothesize an association between SSPE and ITP. Our three cases had measles 1-2 years before the onset of ITP and 8-10 years before first symptoms of SSPE...
February 2018: Medical Hypotheses
https://www.readbyqxmd.com/read/29384111/immunogenetics-of-cytokine-genes-in-parthenium-dermatitis-a-review
#18
REVIEW
N Akhtar, K K Verma, A Sharma
Parthenium dermatitis is a chronic immuno-inflammatory, distressing skin disease and is mediated by activated T-lymphocyte which is primarily manifested on the exposed sites of the face, neck, hand and flexures. Parthenium hysterophorus is ubiquitous, hence it is diffi-cult to avoid the aero-allergenic antigen parthenin, responsible for the contact dermatitis. The pathogenesis of parthenium dermatitis is characterized by infiltration of T-lymphocytes into challenged skin sites and the development of a cutaneous inflammation due to altered regulatory network of pro and anti-inflammatory cytokines...
March 2018: European Annals of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29365086/genetic-landscape-of-ultra-stable-chronic-lymphocytic-leukemia-patients
#19
S Raponi, I Del Giudice, M Marinelli, J Wang, L Cafforio, C Ilari, A Piciocchi, M Messina, S Bonina, S Tavolaro, M Bordyuh, P Mariglia, N Peragine, F R Mauro, S Chiaretti, S Molica, M Gentile, A Visentin, L Trentin, G M Rigolin, A Cuneo, F Diop, D Rossi, G Gaidano, A Guarini, R Rabadan, R Foà
Background: Chronic lymphocytic leukemia (CLL) has a heterogeneous clinical course. Beside patients requiring immediate treatment, others show an initial indolent phase followed by progression and others do not progress for decades. The latter two subgroups usually display mutated IGHV genes and a favorable FISH profile. Patients and Methods: Patients with absence of disease progression for over 10 years (11-30) from diagnosis were defined as ultra-stable CLL (US-CLL)...
January 22, 2018: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/29339521/immunogenetic-novelty-confers-a-selective-advantage-in-host-pathogen-coevolution
#20
Karl P Phillips, Joanne Cable, Ryan S Mohammed, Magdalena Herdegen-Radwan, Jarosław Raubic, Karolina J Przesmycka, Cock van Oosterhout, Jacek Radwan
The major histocompatibility complex (MHC) is crucial to the adaptive immune response of vertebrates and is among the most polymorphic gene families known. Its high diversity is usually attributed to selection imposed by fast-evolving pathogens. Pathogens are thought to evolve to escape recognition by common immune alleles, and, hence, novel MHC alleles, introduced through mutation, recombination, or gene flow, are predicted to give hosts superior resistance. Although this theoretical prediction underpins host-pathogen "Red Queen" coevolution, it has not been demonstrated in the context of natural MHC diversity...
February 13, 2018: Proceedings of the National Academy of Sciences of the United States of America
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