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https://www.readbyqxmd.com/read/28327206/lessons-learned-from-additional-research-analyses-of-unsolved-clinical-exome-cases
#1
Mohammad K Eldomery, Zeynep Coban-Akdemir, Tamar Harel, Jill A Rosenfeld, Tomasz Gambin, Asbjørg Stray-Pedersen, Sébastien Küry, Sandra Mercier, Davor Lessel, Jonas Denecke, Wojciech Wiszniewski, Samantha Penney, Pengfei Liu, Weimin Bi, Seema R Lalani, Christian P Schaaf, Michael F Wangler, Carlos A Bacino, Richard Alan Lewis, Lorraine Potocki, Brett H Graham, John W Belmont, Fernando Scaglia, Jordan S Orange, Shalini N Jhangiani, Theodore Chiang, Harsha Doddapaneni, Jianhong Hu, Donna M Muzny, Fan Xia, Arthur L Beaudet, Eric Boerwinkle, Christine M Eng, Sharon E Plon, V Reid Sutton, Richard A Gibbs, Jennifer E Posey, Yaping Yang, James R Lupski
BACKGROUND: Given the rarity of most single-gene Mendelian disorders, concerted efforts of data exchange between clinical and scientific communities are critical to optimize molecular diagnosis and novel disease gene discovery. METHODS: We designed and implemented protocols for the study of cases for which a plausible molecular diagnosis was not achieved in a clinical genomics diagnostic laboratory (i.e. unsolved clinical exomes). Such cases were recruited to a research laboratory for further analyses, in order to potentially: (1) accelerate novel disease gene discovery; (2) increase the molecular diagnostic yield of whole exome sequencing (WES); and (3) gain insight into the genetic mechanisms of disease...
March 21, 2017: Genome Medicine
https://www.readbyqxmd.com/read/28255722/measurement-of-lytic-granule-convergence-after-formation-of-an-nk-cell-immunological-synapse
#2
Hsiang-Ting Hsu, Alexandre F Carisey, Jordan S Orange
Natural killer (NK) cells contain specialized lysosome-related organelles termed lytic granules allowing them to mediate cytotoxicity against tumorigenic or virally infected target cells. NK cells polarize their lytic granules toward a target cell via the microtubule-organizing center (MTOC). Prior to that, however, lytic granules converge to the MTOC along microtubules utilizing minus-end-directed microtubule motors. Herein we describe how to visualize and quantify lytic granule convergence using confocal microscopy to gain quantitative insight into NK cell cytotoxicity and its regulation...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28239602/first-case-of-cd40lg-deficiency-in-ecuador-diagnosed-after-whole-exome-sequencing-in-a-patient-with-severe-cutaneous-histoplasmosis
#3
Luis Alberto Pedroza, Nina Guerrero, Asbjørg Stray-Pedersen, Cristina Tafur, Roque Macias, Greta Muñoz, Zeynep Coban Akdemir, Shalini N Jhangiani, Levi B Watkin, Ivan K Chinn, James R Lupski, Jordan S Orange
Severe infections with Histoplasma capsulatum are commonly observed in patient with secondary immunodeficiency disorders. We report a two and a half years old boy previously healthy with disseminated cutaneous histoplasmosis. Using whole exome sequencing, we found an indel mutation at the CD40LG gene, suggesting a diagnosis of hyper-IgM (HIGM) syndrome, even in the absence of the usual features for the disease. Interestingly, the patient lives in a region endemic for histoplasmosis. The unusual infections in our case suggest that in children with severe histoplasmosis and resident in endemic areas, HIGM syndrome should be considered as a diagnosis...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28224361/modeling-strategy-to-identify-patients-with-primary-immunodeficiency-utilizing-risk-management-and-outcome-measurement
#4
Vicki Modell, Jessica Quinn, Grant Ginsberg, Ron Gladue, Jordan Orange, Fred Modell
This study seeks to generate analytic insights into risk management and probability of an identifiable primary immunodeficiency defect. The Jeffrey Modell Centers Network database, Jeffrey Modell Foundation's 10 Warning Signs, the 4 Stages of Testing Algorithm, physician-reported clinical outcomes, programs of physician education and public awareness, the SPIRIT® Analyzer, and newborn screening, taken together, generates P values of less than 0.05%. This indicates that the data results do not occur by chance, and that there is a better than 95% probability that the data are valid...
February 21, 2017: Immunologic Research
https://www.readbyqxmd.com/read/28192730/inducible-turnover-of-optineurin-regulates-t-cell-activation
#5
Angela Montecalvo, Simon C Watkins, Jordan Orange, Lawrence P Kane
Optineurin (Optn) is an adaptor protein with homology to NF-κB essential modulator (NEMO), the regulatory subunit of the IκB kinase (IKK) complex. Dysregulation of Optn has been linked to neurodegenerative, autoimmune and bone diseases. Optn shares a high degree of homology with NEMO, but is not part of the same high-molecular weight complex containing IKKα and IKKβ. Despite its homology with NEMO and the fact that it has been the subject of extensive study in several cell types, there are no published studies addressing the role of Optn during T cell activation...
February 10, 2017: Molecular Immunology
https://www.readbyqxmd.com/read/28124237/increased-incidence-of-fatigue-in-patients-with-primary-immunodeficiency-disorders-prevalence-and-associations-within-the-us-immunodeficiency-network-registry
#6
Joud Hajjar, Danielle Guffey, Charles G Minard, Jordan S Orange
INTRODUCTION: Patients with primary immunodeficiency (PID) often report fatigue, yet this symptom has not been studied in PID. Fatigue affects 6-7.5% of healthy adults. The goal of this study is to estimate the prevalence of fatigue in patients with PID and investigate its associated factors. METHODS: We analyzed 2537 PID patients registered in USIDNET to determine responses to the field "fatigue" in the core registry form. Demographics, immune phenotypes, and comorbid conditions were compared between fatigued and non-fatigued patients to identify relevant associations and potential drivers...
February 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28041678/update-on-the-use-of-immunoglobulin-in-human-disease-a%C3%A2-review-of-evidence
#7
Elena E Perez, Jordan S Orange, Francisco Bonilla, Javier Chinen, Ivan K Chinn, Morna Dorsey, Yehia El-Gamal, Terry O Harville, Elham Hossny, Bruce Mazer, Robert Nelson, Elizabeth Secord, Stanley C Jordan, E Richard Stiehm, Ashley A Vo, Mark Ballow
Human immunoglobulin preparations for intravenous or subcutaneous administration are the cornerstone of treatment in patients with primary immunodeficiency diseases affecting the humoral immune system. Intravenous preparations have a number of important uses in the treatment of other diseases in humans as well, some for which acceptable treatment alternatives do not exist. We provide an update of the evidence-based guideline on immunoglobulin therapy, last published in 2006. Given the potential risks and inherent scarcity of human immunoglobulin, careful consideration of its indications and administration is warranted...
March 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/27994588/genetic-causes-of-human-nk-cell-deficiency-and-their-effect-on-nk-cell-subsets
#8
REVIEW
Emily M Mace, Jordan S Orange
Human NK cells play critical roles in human host defense, particularly the control of viral infection and malignancy, and patients with congenital immunodeficiency affecting NK cell function or number can suffer from severe illness. The importance of NK cell function is particularly underscored in patients with primary immunodeficiency in which NK cells are the primary or sole affected population (NK cell deficiency, NKD). While NKD may lead to the absence of NK cells, we are also gaining an increasing appreciation of the effect that NKD may have on the generation of specific NK cell subsets...
2016: Frontiers in Immunology
https://www.readbyqxmd.com/read/27931293/pulmonologist-perspectives-regarding-diagnosis-and-management-of-primary-immunodeficiency-diseases
#9
Jordan S Orange, Javeed Akhter, Filiz O Seeborg, Marcia Boyle, Christopher Scalchunes, Vivian Hernandez-Trujillo
BACKGROUND: The time from symptom onset to diagnosis for patients with primary immunodeficiency diseases (PIDD) is an average of 12 years, but prompt diagnosis and treatment can promote best outcomes. OBJECTIVE: Because the manifestations of PIDD are often sinopulmonary in nature, patients with undiagnosed PIDD are frequently referred to pulmonologists. This study sought to identify opportunities among these specialists to improve diagnosis and clinical management of patients with PIDD...
November 2016: Allergy and Asthma Proceedings:
https://www.readbyqxmd.com/read/27903610/nk-cells-converge-lytic-granules-to-promote-cytotoxicity-and-prevent-bystander-killing
#10
Hsiang-Ting Hsu, Emily M Mace, Alexandre F Carisey, Dixita I Viswanath, Athanasia E Christakou, Martin Wiklund, Björn Önfelt, Jordan S Orange
Natural killer (NK) cell activation triggers sequential cellular events leading to destruction of diseased cells. We previously identified lytic granule convergence, a dynein- and integrin signal-dependent movement of lysosome-related organelles to the microtubule-organizing center, as an early step in the cell biological process underlying NK cell cytotoxicity. Why lytic granules converge during NK cell cytotoxicity, however, remains unclear. We experimentally controlled the availability of human ligands to regulate NK cell signaling and promote granule convergence with either directed or nondirected degranulation...
December 19, 2016: Journal of Cell Biology
https://www.readbyqxmd.com/read/27893462/biallelic-mutations-in-irf8-impair-human-nk-cell-maturation-and-function
#11
Emily M Mace, Venetia Bigley, Justin T Gunesch, Ivan K Chinn, Laura S Angelo, Matthew A Care, Sheetal Maisuria, Michael D Keller, Sumihito Togi, Levi B Watkin, David F LaRosa, Shalini N Jhangiani, Donna M Muzny, Asbjørg Stray-Pedersen, Zeynep Coban Akdemir, Jansen B Smith, Mayra Hernández-Sanabria, Duy T Le, Graham D Hogg, Tram N Cao, Aharon G Freud, Eva P Szymanski, Sinisa Savic, Matthew Collin, Andrew J Cant, Richard A Gibbs, Steven M Holland, Michael A Caligiuri, Keiko Ozato, Silke Paust, Gina M Doody, James R Lupski, Jordan S Orange
Human NK cell deficiencies are rare yet result in severe and often fatal disease, particularly as a result of viral susceptibility. NK cells develop from hematopoietic stem cells, and few monogenic errors that specifically interrupt NK cell development have been reported. Here we have described biallelic mutations in IRF8, which encodes an interferon regulatory factor, as a cause of familial NK cell deficiency that results in fatal and severe viral disease. Compound heterozygous or homozygous mutations in IRF8 in 3 unrelated families resulted in a paucity of mature CD56dim NK cells and an increase in the frequency of the immature CD56bright NK cells, and this impairment in terminal maturation was also observed in Irf8-/-, but not Irf8+/-, mice...
January 3, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/27776107/rasgrp1-deficiency-causes-immunodeficiency-with-impaired-cytoskeletal-dynamics
#12
Elisabeth Salzer, Deniz Cagdas, Miroslav Hons, Emily M Mace, Wojciech Garncarz, Özlem Yüce Petronczki, René Platzer, Laurène Pfajfer, Ivan Bilic, Sol A Ban, Katharina L Willmann, Malini Mukherjee, Verena Supper, Hsiang Ting Hsu, Pinaki P Banerjee, Papiya Sinha, Fabienne McClanahan, Gerhard J Zlabinger, Winfried F Pickl, John G Gribben, Hannes Stockinger, Keiryn L Bennett, Johannes B Huppa, Loïc Dupré, Özden Sanal, Ulrich Jäger, Michael Sixt, Ilhan Tezcan, Jordan S Orange, Kaan Boztug
RASGRP1 is an important guanine nucleotide exchange factor and activator of the RAS-MAPK pathway following T cell antigen receptor (TCR) signaling. The consequences of RASGRP1 mutations in humans are unknown. In a patient with recurrent bacterial and viral infections, born to healthy consanguineous parents, we used homozygosity mapping and exome sequencing to identify a biallelic stop-gain variant in RASGRP1. This variant segregated perfectly with the disease and has not been reported in genetic databases. RASGRP1 deficiency was associated in T cells and B cells with decreased phosphorylation of the extracellular-signal-regulated serine kinase ERK, which was restored following expression of wild-type RASGRP1...
December 2016: Nature Immunology
https://www.readbyqxmd.com/read/27722150/gastric-adenocarcinoma-in-a-patient-with-x-linked-agammaglobulinemia-and-hiv-case-report-and-review-of-the-literature
#13
Joud Hajjar, Sana Hasan, Lisa R Forbes, Vagish Hemmige, Jordan S Orange
No abstract text is available yet for this article.
2016: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/27665385/development-and-initial-validation-of-a-questionnaire-to-measure-health-related-quality-of-life-of-adults-with-common-variable-immune-deficiency-the-cvid_qol-questionnaire
#14
Isabella Quinti, Federica Pulvirenti, Patrizia Giannantoni, Joud Hajjar, Debra L Canter, Cinzia Milito, Damiano Abeni, Jordan S Orange, Stefano Tabolli
BACKGROUND: Generic health status quality of life (QoL) instruments have been used in patients with common variable immune deficiency (CVID). However, by their nature, these tools may over- or underestimate the impact of diseases on an individual's QoL. OBJECTIVE: The objective of this study was to develop and validate a questionnaire to measure specific-health-related QoL for adults with CVID (CVID_QoL). METHODS: The 32-item content of the CVID_QoL questionnaire was developed using focus groups and individual patient interviews...
September 21, 2016: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/27577878/primary-immunodeficiency-diseases-genomic-approaches-delineate-heterogeneous-mendelian-disorders
#15
Asbjørg Stray-Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon, Tomasz Gambin, Ivan K Chinn, Zeynep H Coban Akdemir, Hans Christian Erichsen, Lisa R Forbes, Shen Gu, Bo Yuan, Shalini N Jhangiani, Donna M Muzny, Olaug Kristin Rødningen, Ying Sheng, Sarah K Nicholas, Lenora M Noroski, Filiz O Seeborg, Carla M Davis, Debra L Canter, Emily M Mace, Timothy J Vece, Carl E Allen, Harshal A Abhyankar, Philip M Boone, Christine R Beck, Wojciech Wiszniewski, Børre Fevang, Pål Aukrust, Geir E Tjønnfjord, Tobias Gedde-Dahl, Henrik Hjorth-Hansen, Ingunn Dybedal, Ingvild Nordøy, Silje F Jørgensen, Tore G Abrahamsen, Torstein Øverland, Anne Grete Bechensteen, Vegard Skogen, Liv T N Osnes, Mari Ann Kulseth, Trine E Prescott, Cecilie F Rustad, Ketil R Heimdal, John W Belmont, Nicholas L Rider, Javier Chinen, Tram N Cao, Eric A Smith, Maria Soledad Caldirola, Liliana Bezrodnik, Saul Oswaldo Lugo Reyes, Francisco J Espinosa Rosales, Nina Denisse Guerrero-Cursaru, Luis Alberto Pedroza, Cecilia M Poli, Jose L Franco, Claudia M Trujillo Vargas, Juan Carlos Aldave Becerra, Nicola Wright, Thomas B Issekutz, Andrew C Issekutz, Jordan Abbott, Jason W Caldwell, Diana K Bayer, Alice Y Chan, Alessandro Aiuti, Caterina Cancrini, Eva Holmberg, Christina West, Magnus Burstedt, Ender Karaca, Gözde Yesil, Hasibe Artac, Yavuz Bayram, Mehmed Musa Atik, Mohammad K Eldomery, Mohammad S Ehlayel, Stephen Jolles, Berit Flatø, Alison A Bertuch, I Celine Hanson, Victor W Zhang, Lee-Jun Wong, Jianhong Hu, Magdalena Walkiewicz, Yaping Yang, Christine M Eng, Eric Boerwinkle, Richard A Gibbs, William T Shearer, Robert Lyle, Jordan S Orange, James R Lupski
BACKGROUND: Primary immunodeficiency diseases (PIDDs) are clinically and genetically heterogeneous disorders thus far associated with mutations in more than 300 genes. The clinical phenotypes derived from distinct genotypes can overlap. Genetic etiology can be a prognostic indicator of disease severity and can influence treatment decisions. OBJECTIVE: We sought to investigate the ability of whole-exome screening methods to detect disease-causing variants in patients with PIDDs...
January 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/27557945/cytoskeletal-abnormalities-and-neutrophil-dysfunction-in-wdr1-deficiency
#16
Douglas B Kuhns, Danielle L Fink, Uimook Choi, Colin Sweeney, Karen Lau, Debra Long Priel, Dara Riva, Laura Mendez, Gulbu Uzel, Alexandra F Freeman, Kenneth N Olivier, Victoria L Anderson, Robin Currens, Vanessa Mackley, Allison Kang, Mehdi Al-Adeli, Emily Mace, Jordan S Orange, Elizabeth Kang, Stephen J Lockett, De Chen, Peter J Steinbach, Amy P Hsu, Kol A Zarember, Harry L Malech, John I Gallin, Steven M Holland
Cell motility, division, and structural integrity depend on dynamic remodeling of the cellular cytoskeleton, which is regulated in part by actin polymerization and depolymerization. In 3 families, we identified 4 children with recurrent infections and varying clinical manifestations including mild neutropenia, impaired wound healing, severe stomatitis with oral stenosis, and death. All patients studied had similar distinctive neutrophil herniation of the nuclear lobes and agranular regions within the cytosol...
October 27, 2016: Blood
https://www.readbyqxmd.com/read/27554822/dedicator-of-cytokinesis-8-deficient-cd4-t%C3%A2-cells-are-biased-to-a-th2-effector-fate-at-the-expense-of-th1-and-th17%C3%A2-cells
#17
Stuart G Tangye, Bethany Pillay, Katrina L Randall, Danielle T Avery, Tri Giang Phan, Paul Gray, John B Ziegler, Joanne M Smart, Jane Peake, Peter D Arkwright, Sophie Hambleton, Jordan Orange, Christopher C Goodnow, Gulbu Uzel, Jean-Laurent Casanova, Saul Oswaldo Lugo Reyes, Alexandra F Freeman, Helen C Su, Cindy S Ma
BACKGROUND: Dedicator of cytokinesis 8 (DOCK8) deficiency is a combined immunodeficiency caused by autosomal recessive loss-of-function mutations in DOCK8. This disorder is characterized by recurrent cutaneous infections, increased serum IgE levels, and severe atopic disease, including food-induced anaphylaxis. However, the contribution of defects in CD4(+) T cells to disease pathogenesis in these patients has not been thoroughly investigated. OBJECTIVE: We sought to investigate the phenotype and function of DOCK8-deficient CD4(+) T cells to determine (1) intrinsic and extrinsic CD4(+) T-cell defects and (2) how defects account for the clinical features of DOCK8 deficiency...
August 20, 2016: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/27484032/rapid-molecular-diagnostics-of-severe-primary-immunodeficiency-determined-by-using-targeted-next-generation-sequencing
#18
Hui Yu, Victor Wei Zhang, Asbjørg Stray-Pedersen, Imelda Celine Hanson, Lisa R Forbes, M Teresa de la Morena, Ivan K Chinn, Elizabeth Gorman, Nancy J Mendelsohn, Tamara Pozos, Wojciech Wiszniewski, Sarah K Nicholas, Anne B Yates, Lindsey E Moore, Knut Erik Berge, Hanne Sorte, Diana K Bayer, Daifulah ALZahrani, Raif S Geha, Yanming Feng, Guoli Wang, Jordan S Orange, James R Lupski, Jing Wang, Lee-Jun Wong
BACKGROUND: Primary immunodeficiency diseases (PIDDs) are inherited disorders of the immune system. The most severe form, severe combined immunodeficiency (SCID), presents with profound deficiencies of T cells, B cells, or both at birth. If not treated promptly, affected patients usually do not live beyond infancy because of infections. Genetic heterogeneity of SCID frequently delays the diagnosis; a specific diagnosis is crucial for life-saving treatment and optimal management. OBJECTIVE: We developed a next-generation sequencing (NGS)-based multigene-targeted panel for SCID and other severe PIDDs requiring rapid therapeutic actions in a clinical laboratory setting...
October 2016: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/27477778/il-2-in-the-tumor-microenvironment-is-necessary-for-wiskott-aldrich-syndrome-protein-deficient-nk-cells-to-respond-to-tumors-in-vivo
#19
Joanna S Kritikou, Carin I M Dahlberg, Marisa A P Baptista, Arnika K Wagner, Pinaki P Banerjee, Lavesh Amar Gwalani, Cecilia Poli, Sudeepta K Panda, Klas Kärre, Susan M Kaech, Fredrik Wermeling, John Andersson, Jordan S Orange, Hanna Brauner, Lisa S Westerberg
To kill target cells, natural killer (NK) cells organize signaling from activating and inhibitory receptors to form a lytic synapse. Wiskott-Aldrich syndrome (WAS) patients have loss-of-function mutations in the actin regulator WASp and suffer from immunodeficiency with increased risk to develop lymphoreticular malignancies. NK cells from WAS patients fail to form lytic synapses, however, the functional outcome in vivo remains unknown. Here, we show that WASp KO NK cells had decreased capacity to degranulate and produce IFNγ upon NKp46 stimulation and this was associated with reduced capacity to kill MHC class I-deficient hematopoietic grafts...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27435370/human-nk-cell-development-requires-cd56-mediated-motility-and-formation-of-the-developmental-synapse
#20
Emily M Mace, Justin T Gunesch, Amera Dixon, Jordan S Orange
While distinct stages of natural killer (NK) cell development have been defined, the molecular interactions that shape human NK cell maturation are poorly understood. Here we define intercellular interactions between developing NK cells and stromal cells which, through contact-dependent mechanisms, promote the generation of mature, functional human NK cells from CD34(+) precursors. We show that developing NK cells undergo unique, developmental stage-specific sustained and transient interactions with developmentally supportive stromal cells, and that the relative motility of NK cells increases as they move through development in vitro and ex vivo...
2016: Nature Communications
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