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https://www.readbyqxmd.com/read/29675737/use-of-genetic-testing-for-primary-immunodeficiency-patients
#1
Jennifer R Heimall, David Hagin, Joud Hajjar, Sarah E Henrickson, Hillary S Hernandez-Trujillo, Yuval Tan, Lisa Kobrynski, Kenneth Paris, Troy R Torgerson, James W Verbsky, Richard L Wasserman, Elena W Y Hsieh, Jack J Blessing, Janet S Chou, Monica G Lawrence, Rebecca A Marsh, Sergio D Rosenzweig, Jordan S Orange, Roshini S Abraham
Genetic testing plays a critical role in diagnosis for many primary immunodeficiency diseases. The goals of this report are to outline some of the challenges that clinical immunologists face routinely in the use of genetic testing for patient care. In addition, we provide a review of the types of genetic testing used in the diagnosis of PID, including their strengths and limitations. We describe the strengths and limitations of different genetic testing approaches for specific clinical contexts that raise concern for specific PID disorders in light of the challenges reported by the clinical immunologist members of the CIS in a recent membership survey...
April 19, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29672640/differential-impact-of-transplantation-on-peripheral-and-tissue-associated-viral-reservoirs-implications-for-hiv-gene-therapy
#2
Christopher W Peterson, Jianbin Wang, Claire Deleage, Sowmya Reddy, Jasbir Kaur, Patricia Polacino, Andreas Reik, Meei-Li Huang, Keith R Jerome, Shiu-Lok Hu, Michael C Holmes, Jacob D Estes, Hans-Peter Kiem
Autologous transplantation and engraftment of HIV-resistant cells in sufficient numbers should recapitulate the functional cure of the Berlin Patient, with applicability to a greater number of infected individuals and with a superior safety profile. A robust preclinical model of suppressed HIV infection is critical in order to test such gene therapy-based cure strategies, both alone and in combination with other cure strategies. Here, we present a nonhuman primate (NHP) model of latent infection using simian/human immunodeficiency virus (SHIV) and combination antiretroviral therapy (cART) in pigtail macaques...
April 2018: PLoS Pathogens
https://www.readbyqxmd.com/read/29671786/hiv-vaccination-a-roadmap-among-advancements-and-concerns
#3
REVIEW
Maria Trovato, Luciana D'Apice, Antonella Prisco, Piergiuseppe De Berardinis
Since the identification of the Human Immunodeficiency Virus type 1 (HIV-1) as the etiologic agent of AIDS (Acquired Immunodeficiency Syndrome), many efforts have been made to stop the AIDS pandemic. A major success of medical research has been the development of the highly active antiretroviral therapy and its availability to an increasing number of people worldwide, with a considerable effect on survival. However, a safe and effective vaccine able to prevent and eradicate the HIV pandemic is still lacking...
April 19, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29671115/utility-of-dna-rna-protein-and-functional-approaches-to-solve-cryptic-immunodeficiencies
#4
Margot A Cousin, Matthew J Smith, Ashley N Sigafoos, Jay J Jin, Marine I Murphree, Nicole J Boczek, Patrick R Blackburn, Gavin R Oliver, Ross A Aleff, Karl J Clark, Eric D Wieben, Avni Y Joshi, Pavel N Pichurin, Roshini S Abraham, Eric W Klee
PURPOSE: We report a female infant identified by newborn screening for severe combined immunodeficiencies (NBS SCID) with T cell lymphopenia (TCL). The patient had persistently elevated alpha-fetoprotein (AFP) with IgA deficiency, and elevated IgM. Gene sequencing for a SCID panel was uninformative. We sought to determine the cause of the immunodeficiency in this infant. METHODS: We performed whole-exome sequencing (WES) on the patient and parents to identify a genetic diagnosis...
April 18, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29670631/x-linked-lymphoproliferative-disease-type-1-a-clinical-and-molecular-perspective
#5
REVIEW
Neelam Panchal, Claire Booth, Jennifer L Cannons, Pamela L Schwartzberg
X-linked lymphoproliferative disease (XLP) was first described in the 1970s as a fatal lymphoproliferative syndrome associated with infection with Epstein-Barr virus (EBV). Features include hemophagocytic lymphohistiocytosis (HLH), lymphomas, and dysgammaglobulinemias. Molecular cloning of the causative gene, SH2D1A , has provided insight into the nature of disease, as well as helped characterize multiple features of normal immune cell function. Although XLP type 1 (XLP1) provides an example of a primary immunodeficiency in which patients have problems clearing primarily one infectious agent, it is clear that XLP1 is also a disease of severe immune dysregulation, even independent of EBV infection...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29666731/ischemic-stroke-in-an-hiv-positive-patient-an-initial-presentation-of-neurosyphilis
#6
Kalimullah Jan, Rebecca Hoe Hui Min, Tan Seow Yen, Shekhawat Ravindra Singh
Ischemic stroke occurring in patients with human immunodeficiency virus (HIV) needs to be approached with a vast differential diagnosis in mind. We report a case of middle-aged male patient with immune reconstituted HIV on therapy without known cardiovascular risk factors who had a right middle cerebral artery territory infarct. After a thorough evaluation, he received a final diagnosis of neurosyphilis-associated vasculitis leading to stroke. He recovered without any neurological deficits following treatment with intravenous benzylpenicillin...
2018: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/29666343/interleukin-gene-polymorphisms-and-susceptibility-to-hiv-1-infection-a-meta-analysis
#7
Chrissa G Tsiara, Georgios K Nikolopoulos, Niki L Dimou, Katerina G Pantavou, Pantelis G Bagos, Benedicta Mensah, Michael Talias, Georgia G Braliou, Dimitra Paraskeva, Stefanos Bonovas, Angelos Hatzakis
Some subjects are repeatedly exposed to human immunodeficiency virus (HIV), yet they remain uninfected. This suggests the existence of host-resistance mechanisms. The current study synthesizes the evidence regarding the association between interleukin (IL) gene polymorphisms and HIV susceptibility. Medline, Scopus and the Web of Science databases were systematically searched, and a meta-analysis of case-control studies was conducted. Univariate and bivariate methods were used. The literature search identified 42 eligible studies involving 15,727 subjects...
March 2018: Journal of Genetics
https://www.readbyqxmd.com/read/29662026/the-hard-way-towards-an-antibody-based-hiv-1-env-vaccine-lessons-from-other-viruses
#8
REVIEW
Oliver Ringel, Vincent Vieillard, Patrice Debré, Jutta Eichler, Hildegard Büning, Ursula Dietrich
Although effective antibody-based vaccines have been developed against multiple viruses, such approaches have so far failed for the human immunodeficiency virus type 1 (HIV-1). Despite the success of anti-retroviral therapy (ART) that has turned HIV-1 infection into a chronic disease and has reduced the number of new infections worldwide, a vaccine against HIV-1 is still urgently needed. We discuss here the major reasons for the failure of "classical" vaccine approaches, which are mostly due to the biological properties of the virus itself...
April 15, 2018: Viruses
https://www.readbyqxmd.com/read/29652872/medical-management-of-transgender-children-and-adolescents
#9
María Fernanda Castilla-Peón
Transgender or gender nonconforming (GN) persons identify themselves with a gender which is different from that correspondent to their birth sex. The demand for health services by families with transgender children or adolescents tends to increase. The prevalence of GN in children is unknown; however, it has been estimated to be > 1% in adolescents. Transgender persons are at increased risk of depression, suicide, illicit drug abuse, human immunodeficiency virus infection, and non-accidental injury. The most accepted model for the care of transgender persons assumes that these adverse outcomes are the consequence of social margination rather than the GI condition itself...
2018: Boletín Médico del Hospital Infantil de México
https://www.readbyqxmd.com/read/29652075/impact-of-tgf-%C3%AE-family-related-growth-factors-on-chondrogenic-differentiation-of-adipose-derived-stem-cells-isolated-from-lipoaspirates-and-infrapatellar-fat-pads-of-osteoarthritic-patients
#10
E López-Ruiz, G Jiménez, W Kwiatkowski, E Montañez, F Arrebola, E Carrillo, S Choe, J A Marchal, M Perán
The success of cell-based approaches for the treatment of cartilage defects requires an optimal autologous cell source with chondrogenic differentiation ability that maintains its differentiated properties and stability following implantation. The objective of this study was to compare the chondrogenic capacity of mesenchymal stem cells (MSCs) isolated from lipoaspirates (ASCs) and the infrapatellar fat pad (IFPSCs) of osteoarthritic patients and treated with transforming growth factor (TGF)-β family-related growth factors...
April 13, 2018: European Cells & Materials
https://www.readbyqxmd.com/read/29643985/replication-incompetent-gammaretroviral-and-lentiviral-vector-based-insertional-mutagenesis-screens-identify-prostate-cancer-progression-genes
#11
Victor M Bii, Casey P Collins, Jonah D Hocum, Grant D Trobridge
Replication-incompetent gammaretroviral (γRV) and lentiviral (LV) vectors have both been used in insertional mutagenesis screens to identify cancer drivers. In this approach the vectors stably integrate in the host cell genome and induce cancers by dysregulating nearby genes. The cells that contain a retroviral vector provirus in or near a proto-oncogene or tumor suppressor are preferentially enriched in a tumor. γRV and LV vectors have different integration profiles and genotoxic potential, making them potentially complementary tools for insertional mutagenesis screens...
March 20, 2018: Oncotarget
https://www.readbyqxmd.com/read/29643839/variance-component-selection-with-applications-to-microbiome-taxonomic-data
#12
Jing Zhai, Juhyun Kim, Kenneth S Knox, Homer L Twigg, Hua Zhou, Jin J Zhou
High-throughput sequencing technology has enabled population-based studies of the role of the human microbiome in disease etiology and exposure response. Microbiome data are summarized as counts or composition of the bacterial taxa at different taxonomic levels. An important problem is to identify the bacterial taxa that are associated with a response. One method is to test the association of specific taxon with phenotypes in a linear mixed effect model, which incorporates phylogenetic information among bacterial communities...
2018: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29629653/defining-and-surveying-key-populations-at-risk-of-hiv-infection-towards-a-unified-approach-to-eligibility-criteria-for-respondent-driven-sampling-hiv-biobehavioral-surveys
#13
Avi J Hakim, Lisa G Johnston, Samantha Dittrich, Dimitri Prybylski, Janet Burnett, Evelyn Kim
Substantial resources are invested in human immunodeficiency virus biobehavioral surveys using respondent-driven sampling for measuring progress towards the UNAIDS 90-90-90 goals and to obtain other essential data on key populations. Survey data are used to meet country needs as well those of development partners, whose data needs may sometimes diverge. Surveys using differing eligibility criteria impede comparisons across surveys. With scant literature and guidelines on how to approach eligibility criteria, diverse criteria are used within and across countries...
January 1, 2018: International Journal of STD & AIDS
https://www.readbyqxmd.com/read/29625577/gene-therapy-in-rare-diseases-the-benefits-and-challenges-of-developing-a-patient-centric-registry-for-strimvelis-in-ada-scid
#14
Heide Stirnadel-Farrant, Mahesh Kudari, Nadia Garman, Jessica Imrie, Bikramjit Chopra, Stefania Giannelli, Michela Gabaldo, Ambra Corti, Stefano Zancan, Alessandro Aiuti, Maria Pia Cicalese, Rohit Batta, Jonathan Appleby, Mario Davinelli, Pauline Ng
BACKGROUND: Strimvelis (autologous CD34+ cells transduced to express adenosine deaminase [ADA]) is the first ex vivo stem cell gene therapy approved by the European Medicines Agency (EMA), indicated as a single treatment for patients with ADA-severe combined immunodeficiency (ADA-SCID) who lack a suitable matched related bone marrow donor. Existing primary immunodeficiency registries are tailored to transplantation outcomes and do not capture the breadth of safety and efficacy endpoints required by the EMA for the long-term monitoring of gene therapies...
April 6, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29625575/targeted-genome-engineering-in-human-induced-pluripotent-stem-cells-from-patients-with-hemophilia-b-using-the-crispr-cas9-system
#15
Cuicui Lyu, Jun Shen, Rui Wang, Haihui Gu, Jianping Zhang, Feng Xue, Xiaofan Liu, Wei Liu, Rongfeng Fu, Liyan Zhang, Huiyuan Li, Xiaobing Zhang, Tao Cheng, Renchi Yang, Lei Zhang
BACKGROUND: Replacement therapy for hemophilia remains a lifelong treatment. Only gene therapy can cure hemophilia at a fundamental level. The clustered regularly interspaced short palindromic repeats-CRISPR associated nuclease 9 (CRISPR-Cas9) system is a versatile and convenient genome editing tool which can be applied to gene therapy for hemophilia. METHODS: A patient's induced pluripotent stem cells (iPSCs) were generated from their peripheral blood mononuclear cells (PBMNCs) using episomal vectors...
April 6, 2018: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/29618658/pancreatic-cancer-therapy-with-combined-mesothelin-redirected-chimeric-antigen-receptor-t-cells-and-cytokine-armed-oncolytic-adenoviruses
#16
Keisuke Watanabe, Yanping Luo, Tong Da, Sonia Guedan, Marco Ruella, John Scholler, Brian Keith, Regina M Young, Boris Engels, Suvi Sorsa, Mikko Siurala, Riikka Havunen, Siri Tähtinen, Akseli Hemminki, Carl H June
Pancreatic ductal adenocarcinoma (PDA) is characterized by its highly immunosuppressive tumor microenvironment (TME) that limits T cell infiltration and induces T cell hypofunction. Mesothelin-redirected chimeric antigen receptor T cell (meso-CAR T cell) therapy has shown some efficacy in clinical trials but antitumor efficacy remains modest. We hypothesized that combined meso-CAR T cells with an oncolytic adenovirus expressing TNF-α and IL-2 (Ad5/3-E2F-D24-TNFa-IRES-IL2, or OAd-TNFa-IL2) would improve efficacy...
April 5, 2018: JCI Insight
https://www.readbyqxmd.com/read/29615399/human-gucy2c-targeted-chimeric-antigen-receptor-car-expressing-t-cells-eliminate-colorectal-cancer-metastases
#17
Michael S Magee, Tara S Abraham, Trevor R Baybutt, John C Flickinger, Natalie A Ridge, Glen P Marszalowicz, Priyanka Prajapati, Adam R Hersperger, Scott A Waldman, Adam E Snook
One major hurdle to the success of adoptive T-cell therapy is the identification of antigens that permit effective targeting of tumors in the absence of toxicities to essential organs. Previous work has demonstrated that T cells engineered to express chimeric antigen receptors (CAR-T cells) targeting the murine homolog of the colorectal cancer antigen GUCY2C treat established colorectal cancer metastases, without toxicity to the normal GUCY2C-expressing intestinal epithelium, reflecting structural compartmentalization of endogenous GUCY2C to apical membranes comprising the intestinal lumen...
April 3, 2018: Cancer Immunology Research
https://www.readbyqxmd.com/read/29614705/identification-of-a-resilient-mouse-facial-motoneuron-population-following-target-disconnection-by-injury-or-disease
#18
Deborah O Setter, Melissa M Haulcomb, Taylor Beahrs, Rena M Meadows, Nicole D Schartz, Sara K Custer, Virginia M Sanders, Kathryn J Jones
BACKGROUND: When nerve transection is performed on adult rodents, a substantial population of neurons survives short-term disconnection from target, and the immune system supports this neuronal survival, however long-term survival remains unknown. Understanding the effects of permanent axotomy on cell body survival is important as target disconnection is the first pathological occurrence in fatal motoneuron diseases such as amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA)...
March 25, 2018: Restorative Neurology and Neuroscience
https://www.readbyqxmd.com/read/29611095/an-end-user-participatory-approach-to-collaboratively-refine-hiv-care-data-the-new-york-state-experience
#19
Carol-Ann Swain, Steven Sawicki, Diane Addison, Benjamin Katz, Kelly Piersanti, Abigail Baim-Lance, Daniel Gordon, Bridget J Anderson, Denis Nash, Clemens Steinbock, Bruce Agins
Existing data dissemination structures primarily rely on top-down approaches. Unless designed with the end user in mind, this may impair data-driven clinical improvements to Human Immunodeficiency Virus (HIV) prevention and care. In this study, we implemented a data visualization activity to create region-specific data presentations collaboratively with HIV providers, consumers of HIV care, and New York State (NYS) Department of Health AIDS Institute staff for use in local HIV care decision-making. Data from the NYS HIV Surveillance Registry (2009-2013) and HIV care facilities (2010-2015) participating in a Health Resources and Services Administration (HRSA) Systems Linkages and Access to Care project were used...
April 2, 2018: AIDS and Behavior
https://www.readbyqxmd.com/read/29606690/strategies-for-recruiting-women-living-with-human-immunodeficiency-virus-in-community-based-research-lessons-from-canada
#20
Kath Webster, Allison Carter, Karène Proulx-Boucher, Danièle Dubuc, Valerie Nicholson, Kerrigan Beaver, Claudine Gasingirwa, Brigitte Ménard, Nadia O'Brien, Kayla Mitchell, Micaela Pereira Bajard, Erin Ding, Alexandra de Pokomandy, Mona Loutfy, Angela Kaida
OBJECTIVES: This study sought to describe the recruitment of women living with HIV (WLWH) into the community-based Canadian HIV Women's Sexual and Reproductive Health Cohort Study (CHIWOS), because women are under-represented in HIV research. METHODS: There were 1,424 WLWH were enrolled from British Columbia, Ontario, and Québec, who completed detailed questionnaires administered by peer research associates (PRAs; WLWH with research training). During screening, participants were asked: "How did you hear about the study?" We describe recruitment strategies by subpopulation and offer reflections on challenges and successes...
2018: Progress in Community Health Partnerships: Research, Education, and Action
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