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Orange, jordan

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
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
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...
July 16, 2016: Journal of Allergy and Clinical Immunology
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 three families, we identified four 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...
August 24, 2016: Blood
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 characterised by recurrent cutaneous infections, elevated serum IgE, and severe atopic disease including anaphylaxis to foods. However, the contribution of defects in CD4(+) T cells to disease pathogenesis in these patients has not been thoroughly investigated. OBJECTIVE: To investigate the phenotype and function of DOCK8-deficient CD4(+) T cells to determine (1) intrinsic and extrinsic CD4(+) T cell defects (2) how defects account for the clinical features of DOCK8 deficiency...
August 20, 2016: Journal of Allergy and Clinical Immunology
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
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
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
Saskia N van der Crabben, Marije P Hennus, Grant A McGregor, Deborah I Ritter, Sandesh C S Nagamani, Owen S Wells, Magdalena Harakalova, Ivan K Chinn, Aaron Alt, Lucie Vondrova, Ron Hochstenbach, Joris M van Montfrans, Suzanne W Terheggen-Lagro, Stef van Lieshout, Markus J van Roosmalen, Ivo Renkens, Karen Duran, Isaac J Nijman, Wigard P Kloosterman, Eric Hennekam, Jordan S Orange, Peter M van Hasselt, David A Wheeler, Jan J Palecek, Alan R Lehmann, Antony W Oliver, Laurence H Pearl, Sharon E Plon, Johanne M Murray, Gijs van Haaften
The structural maintenance of chromosomes (SMC) family of proteins supports mitotic proliferation, meiosis, and DNA repair to control genomic stability. Impairments in chromosome maintenance are linked to rare chromosome breakage disorders. Here, we have identified a chromosome breakage syndrome associated with severe lung disease in early childhood. Four children from two unrelated kindreds died of severe pulmonary disease during infancy following viral pneumonia with evidence of combined T and B cell immunodeficiency...
August 1, 2016: Journal of Clinical Investigation
Meenakshi Hegde, Malini Mukherjee, Zakaria Grada, Antonella Pignata, Daniel Landi, Shoba A Navai, Amanda Wakefield, Kristen Fousek, Kevin Bielamowicz, Kevin K H Chow, Vita S Brawley, Tiara T Byrd, Simone Krebs, Stephen Gottschalk, Winfried S Wels, Matthew L Baker, Gianpietro Dotti, Maksim Mamonkin, Malcolm K Brenner, Jordan S Orange, Nabil Ahmed
In preclinical models of glioblastoma, antigen escape variants can lead to tumor recurrence after treatment with CAR T cells that are redirected to single tumor antigens. Given the heterogeneous expression of antigens on glioblastomas, we hypothesized that a bispecific CAR molecule would mitigate antigen escape and improve the antitumor activity of T cells. Here, we created a CAR that joins a HER2-binding scFv and an IL13Rα2-binding IL-13 mutein to make a tandem CAR exodomain (TanCAR) and a CD28.ζ endodomain...
August 1, 2016: Journal of Clinical Investigation
Andrew R DiNardo, Emily M Mace, Kelsey Lesteberg, Jeffrey D Cirillo, Anna M Mandalakas, Edward A Graviss, Jordan S Orange, George Makedonas
Helminth-infected individuals possess a higher risk of developing tuberculosis, but the precise immunologic mechanism of Mycobacterium tuberculosis control remains unclear. We hypothesized that a perturbation of the M. tuberculosis-specific CD4(+) T-cell response weakens the ability of macrophages to contain M. tuberculosis We exposed peripheral blood mononuclear cells from M. tuberculosis-infected humans to schistosome soluble egg antigen (SEA) and then profiled M. tuberculosis-specific CD4(+) T cells via multiparametric flow cytometry...
August 1, 2016: Journal of Infectious Diseases
Courtney D DiNardo, Sarah A Bannon, Mark Routbort, Anna Franklin, Maureen Mork, Mary Armanios, Emily M Mace, Jordan S Orange, Meselle Jeff-Eke, Jane E Churpek, Koichi Takahashi, Jeffrey L Jorgensen, Guillermo Garcia-Manero, Steve Kornblau, Alison Bertuch, Hannah Cheung, Kapil Bhalla, Andrew Futreal, Lucy A Godley, Keyur P Patel
INTRODUCTION: Although multiple predispositions to hematologic malignancies exist, evaluations for hereditary cancer syndromes (HCS) are underperformed by most hematologist/oncologists. Criteria for initiating HCS evaluation are poorly defined, and results of genetic testing for hereditary hematologic malignancies have not been systematically reported. PATIENTS AND METHODS: From April 2014 to August 2015, 67 patients were referred to the Hereditary Hematologic Malignancy Clinic (HHMC)...
July 2016: Clinical Lymphoma, Myeloma & Leukemia
Emily M Mace, Jordan S Orange
Recent advances in imaging technology have enabled significant advances in the study of NK cell cytotoxic effector function through quantitative analysis of the NK cell immunological synapse. This can include the use of high- and super-resolution microscopy to quantify dynamics of cytoskeletal elements and the role they play in the regulation and execution of NK cell directed secretion. Here we describe a protocol for the recapitulation of the NK cell lytic synapse on glass, the acquisition of microscopy images, and suggested approaches for the processing and analysis of microscopy data...
2016: Methods in Molecular Biology
Audrea M Burns, Jake A Kushner, Mark A Ward, Teri L Turner, Mark W Kline, Jordan S Orange
No abstract text is available yet for this article.
May 2016: Journal of Pediatrics
Jordan S Orange, Filiz O Seeborg, Marcia Boyle, Christopher Scalchunes, Vivian Hernandez-Trujillo
Primary immunodeficiency diseases (PIDs) include over 250 diverse disorders. The current study assessed management of PID by family practice physicians. The American Academy of Allergy, Asthma, and Immunology Primary Immunodeficiency Committee and the Immune Deficiency Foundation conducted an incentivized mail survey of family practice physician members of the American Medical Association and the American Osteopathic Association in direct patient care. Responses were compared with subspecialist immunologist responses from a similar survey...
2016: Frontiers in Medicine
Timothy J Vece, Levi B Watkin, Sarah K Nicholas, Debra Canter, Michael C Braun, Robert Paul Guillerman, Karen W Eldin, Grant Bertolet, Scott D McKinley, Marietta de Guzman, Lisa R Forbes, Ivan Chinn, Jordan S Orange
Inherently defective immunity typically results in either ineffective host defense, immune regulation, or both. As a category of primary immunodeficiency diseases, those that impair immune regulation can lead to autoimmunity and/or autoinflammation. In this review we focus on one of the most recently discovered primary immunodeficiencies that leads to immune dysregulation: "Copa syndrome". Copa syndrome is named for the gene mutated in the disease, which encodes the alpha subunit of the coatomer complex-I that, in aggregate, is devoted to transiting molecular cargo from the Golgi complex to the endoplasmic reticulum (ER)...
May 2016: Journal of Clinical Immunology
Petra Netter, Sanny K Chan, Pinaki P Banerjee, Linda Monaco-Shawver, Lenora M Noroski, Imelda C Hanson, Lisa R Forbes, Emily M Mace, Javier Chinen, H Bobby Gaspar, Patrick Sleiman, Hakon Hakonarson, Christoph Klein, Mohammad S Ehlayel, Jordan S Orange
No abstract text is available yet for this article.
August 2016: Journal of Allergy and Clinical Immunology
Michael D Keller, Rahul Pandey, Dong Li, Joseph Glessner, Lifeng Tian, Sarah E Henrickson, Ivan K Chinn, Linda Monaco-Shawver, Jennifer Heimall, Cuiping Hou, Frederick G Otieno, Soma Jyonouchi, Leonard Calabrese, Joris van Montfrans, Jordan S Orange, Hakon Hakonarson
BACKGROUND: Genome-wide association studies have shown a pattern of rare copy number variations and single nucleotide polymorphisms in patients with common variable immunodeficiency disorder (CVID), which was recognizable by a support vector machine (SVM) algorithm. However, rare monogenic causes of CVID might lack such a genetic fingerprint. OBJECTIVE: We sought to identify a unique monogenic cause of familial immunodeficiency and evaluate the use of SVM to identify patients with possible monogenic disorders...
August 2016: Journal of Allergy and Clinical Immunology
Andrew R DiNardo, Anna M Mandalakas, Gugu Maphalala, Godwin Mtetwa, Temhlanga Mndzebele, Piluca Ustero, Makhosazana Hlatshwayo, Emily M Mace, Jordan S Orange, George Makedonas
INTRODUCTION: Our objective is to understand how HIV infection increases the risk of progression from latent tuberculosis (TB) to active disease. We understand now that immunity is a balance of competing immune responses by multiple cell types. Since T-lymphocyte production of interferon-gamma (IFN-γ) in response to Mycobacterium tuberculosis (Mtb) antigens fails to differentiate disease from latent infection, we applied a comprehensive profiling methodology to define immune biomarkers that reliably predict a patient's TB risk...
2016: Mediators of Inflammation
Hye Sun Kuehn, Bertrand Boisson, Charlotte Cunningham-Rundles, Janine Reichenbach, Asbjørg Stray-Pedersen, Erwin W Gelfand, Patrick Maffucci, Keith R Pierce, Jordan K Abbott, Karl V Voelkerding, Sarah T South, Nancy H Augustine, Jeana S Bush, William K Dolen, Betty B Wray, Yuval Itan, Aurelie Cobat, Hanne Sørmo Sorte, Sundar Ganesan, Seraina Prader, Thomas B Martins, Monica G Lawrence, Jordan S Orange, Katherine R Calvo, Julie E Niemela, Jean-Laurent Casanova, Thomas A Fleisher, Harry R Hill, Attila Kumánovics, Mary Ellen Conley, Sergio D Rosenzweig
BACKGROUND: Common variable immunodeficiency (CVID) is characterized by late-onset hypogammaglobulinemia in the absence of predisposing factors. The genetic cause is unknown in the majority of cases, and less than 10% of patients have a family history of the disease. Most patients have normal numbers of B cells but lack plasma cells. METHODS: We used whole-exome sequencing and array-based comparative genomic hybridization to evaluate a subset of patients with CVID and low B-cell numbers...
March 17, 2016: New England Journal of Medicine
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