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Orange, jordan

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https://www.readbyqxmd.com/read/28626510/multispecialty-rating-of-evidence-based-conditions-for-intravenous-immunoglobulin-therapy-using-a-3-axis-prioritization-algorithm
#1
Jordan S Orange, Matt Johnson, Barb Lennert, Katarzyna Shields, Michael Eaddy
BACKGROUND: A 3-axis prioritization algorithm was proposed and was evaluated in a US multispecialist pilot study to obtain uniform consensus regarding effective practices for the use of intravenous immunoglobulin (IVIG) therapy. OBJECTIVE: The primary objective was to use consensus-building methodologies to rate disease states for IVIG utilization while considering disease severity and the efficacy of alternative therapeutic options to IVIG from the perspective of US multispecialists...
May 2017: American Health & Drug Benefits
https://www.readbyqxmd.com/read/28603521/novel-combined-immune-deficiency-and-radiation-sensitivity-blended-phenotype-in-an-adult-with-biallelic-variations-in-zap70-and-rnf168
#2
Ivan K Chinn, Robert P Sanders, Asbjørg Stray-Pedersen, Zeynep H Coban-Akdemir, Vy Hong-Diep Kim, Harjit Dadi, Chaim M Roifman, Troy Quigg, James R Lupski, Jordan S Orange, I Celine Hanson
With the advent of high-throughput genomic sequencing techniques, novel genetic etiologies are being uncovered for previously unexplained Mendelian phenotypes, and the underlying genetic architecture of disease is being unraveled. Although most of these "mendelizing" disease traits represent phenotypes caused by single-gene defects, a percentage of patients have blended phenotypes caused by pathogenic variants in multiple genes. We describe an adult patient with susceptibility to bacterial, herpesviral, and fungal infections...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28588580/specific-antibody-deficiency-controversies-in-diagnosis-and-management
#3
REVIEW
Elena Perez, Francisco A Bonilla, Jordan S Orange, Mark Ballow
Specific antibody deficiency (SAD) is a primary immunodeficiency disease characterized by normal immunoglobulins (Igs), IgA, IgM, total IgG, and IgG subclass levels, but with recurrent infection and diminished antibody responses to polysaccharide antigens following vaccination. There is a lack of consensus regarding the diagnosis and treatment of SAD, and its clinical significance is not well understood. Here, we discuss current evidence and challenges regarding the diagnosis and treatment of SAD. SAD is normally diagnosed by determining protective titers in response to the 23-valent pneumococcal polysaccharide vaccine...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28583665/overview-nk-cell-based-immunotherapies-toward-into-clinical-trials
#4
EDITORIAL
Mark A Exley, Jordan S Orange
No abstract text is available yet for this article.
April 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28555177/changes-in-frequency-and-activation-status-of-major-cd4-t-cell-subsets-after-initiation-of-immunosuppressive-therapy-in-a-patient-with-new-diagnosis-childhood-onset-systemic-lupus-erythematosus
#5
Saimun Singla, Scott E Wenderfer, Eyal Muscal, Anna Carmela P Sagcal-Gironella, Jordan S Orange, George Makedonas
BACKGROUND: Several studies suggest that defects of regulatory T-cells (Tregs) and impaired cellular immunity are secondary to an imbalance between auto-aggressive T-cells and Tregs in lupus patients. Discrepancies in Tregs and effector T-cells (Teff) in active lupus patients are shown to be restored in patients upon receiving immunosuppressive therapy. Therefore, our main aim was to observe frequencies of these CD4(+) T-cell subsets and Tregs/Teff ratio in a new diagnosis of childhood-onset systemic lupus erythematous (cSLE) before and after initiation of therapy...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28536745/health-related-quality-of-life-in-adult-patients-with-common-variable-immunodeficiency-disorders-and-impact-of-treatment
#6
Nicholas L Rider, Carleigh Kutac, Joud Hajjar, Chris Scalchunes, Filiz O Seeborg, Marcia Boyle, Jordan S Orange
PURPOSE: Common variable immunodeficiency disorder (CVID) is a primary immunodeficiency disease (PIDD) often associated with severe and chronic infections. Patients commonly receive immunoglobulin (Ig) treatment to reduce the cycle of recurrent infection and improve physical functioning. However, how Ig treatment in CVID affects quality of life (QOL) has not been thoroughly evaluated. The purpose of a recent Immune Deficiency Foundation (IDF) mail survey was to assess the factors that are associated with QOL in patients with CVID receiving Ig treatment...
May 23, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28455356/the-coordinating-role-of-iqgap1-in-the-regulation-of-local-endosome-specific-actin-networks
#7
Edward B Samson, David S Tsao, Jan Zimak, R Tyler McLaughlin, Nicholaus J Trenton, Emily M Mace, Jordan S Orange, Volker Schweikhard, Michael R Diehl
IQGAP1 is a large, multi-domain scaffold that helps orchestrate cell signaling and cytoskeletal mechanics by controlling interactions among a spectrum of receptors, signaling intermediates, and cytoskeletal proteins. While this coordination is known to impact cell morphology, motility, cell adhesion, and vesicular traffic, among other functions, the spatiotemporal properties and regulatory mechanisms of IQGAP1 have not been fully resolved. Herein, we describe a series of super-resolution and live-cell imaging analyses that identified a role for IQGAP1 in the regulation of an actin cytoskeletal shell surrounding a novel membranous compartment that localizes selectively to the basal cortex of polarized epithelial cells (MCF-10A)...
June 15, 2017: Biology Open
https://www.readbyqxmd.com/read/28438538/linking-newborn-severe-combined-immunodeficiency-screening-with-targeted-exome-sequencing-a-case-report
#8
Dipika R Patel, Hui Yu, Lee-Jun C Wong, James R Lupski, Filiz O Seeborg, Nicholas L Rider, Caridad A Martinez, Jordan S Orange, Celine Hanson
No abstract text is available yet for this article.
April 21, 2017: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/28327206/lessons-learned-from-additional-research-analyses-of-unsolved-clinical-exome-cases
#9
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
#10
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
#11
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
#12
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...
June 2017: Immunologic Research
https://www.readbyqxmd.com/read/28192730/inducible-turnover-of-optineurin-regulates-t-cell-activation
#13
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...
May 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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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