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https://www.readbyqxmd.com/read/28918671/long-term-outcomes-of-severe-combined-immunodeficiency-therapy-implications
#1
Jennifer Heimall, Morton J Cowan
Newborn screening has led to a better understanding of the prevalence of Severe Combined Immunodeficiency (SCID) overall and in terms of specific genotypes. Survival has improved following hematopoietic stem cell transplantation (HCT) with the best outcomes seen following use of a matched sibling donor. However, questions remain regarding the optimal alternative donor source, appropriate use of conditioning and the impact of these decisions on immune reconstitution and other late morbidities. Areas covered: The currently available literature reporting late effects after HCT for SCID and use of alternative therapies including enzyme replacement, alternative donors and gene therapy are reviewed...
September 18, 2017: Expert Review of Clinical Immunology
https://www.readbyqxmd.com/read/28895850/gene-therapy-approaches-to-immunodeficiency
#2
REVIEW
Sujal Ghosh, H Bobby Gaspar
Transfer of gene-corrected autologous hematopoietic stem cells in patients with primary immunodeficiencies has emerged as a new therapeutic approach. Patients with various conditions lacking a suitable donor have been treated with retroviral vectors and a gene-addition strategy. Initial promising results were shadowed by the occurrence of malignancies in some of these patients. Current trials, developed in the last decade, use safer viral vectors to overcome the risk of genotoxicity and have led to improved clinical outcomes...
October 2017: Hematology/oncology Clinics of North America
https://www.readbyqxmd.com/read/28895849/opening-marrow-niches-in-patients-undergoing-autologous-hematopoietic-stem-cell-gene-therapy
#3
REVIEW
Morton J Cowan, Christopher C Dvorak, Janel Long-Boyle
Successful gene therapy for genetic disorders requires marrow niches to be opened to varying degrees to engraft gene-corrected hematopoietic stem cells (HSC). For example, in severe combined immunodeficiency, relatively limited chimerism is necessary for both T- and B-cell immune reconstitution, whereas for inborn errors of metabolism maximal donor chimerism is the goal. Currently, alkylating chemotherapy is used for this purpose. Significant pharmacokinetic variability exists in drug clearance in children less than 12 years old...
October 2017: Hematology/oncology Clinics of North America
https://www.readbyqxmd.com/read/28883990/the-development-of-t-cells-from-stem-cells-in-mice-and-humans
#4
REVIEW
Farbod Famili, Anna-Sophia Wiekmeijer, Frank Jt Staal
T cells develop from hematopoietic stem cells in the specialized microenvironment of the thymus. The main transcriptional players of T-cell differentiation such as Notch, Tcf-1, Gata3 and Bcl11b have been identified, but their role and regulation are not yet completely understood. In humans, functional experiments on T-cell development have traditionally been rather difficult to perform, but novel in vitro culture systems and in vivo xenograft models have allowed detailed studies on human T-cell development...
August 2017: Future Science OA
https://www.readbyqxmd.com/read/28879669/optimising-combination-of-vascular-endothelial-growth-factor-and-mesenchymal-stem-cells-on-ectopic-bone-formation-in-scid-mice
#5
Chris H Dreyer, Kristian Kjaergaard, Nicholas Ditzel, Niklas R Jørgensen, Søren Overgaard, Ming Ding
INTRODUCTION: Insufficient blood supply may limit bone regeneration in bone defects. Vascular endothelial growth factor (VEGF) promotes angiogenesis by increasing endothelial migration. This outcome, however, could depend on time of application. Sheep mesenchymal stem cells (MSCs) in severe combined immunodeficient (SCID) mice were used in this study to evaluate optimal time points for VEGF stimulation to increase bone formation. METHODS: Twenty-eight SCID (NOD...
September 6, 2017: Journal of Biomedical Materials Research. Part A
https://www.readbyqxmd.com/read/28861919/newborn-screening-for-severe-combined-immunodeficiency-evaluation-of-a-commercial-t-cell-receptor-excision-circle-based-method-in-victorian-dried-blood-spots
#6
Stephanie Richards, James Pitt, Sharon Choo
AIM: Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiency and is fatal in infancy if untreated. As early diagnosis is associated with improved outcomes, SCID is an ideal condition to consider for inclusion in a newborn screening (NBS) programme in Australia. In this feasibility study, we evaluated the EnLite Neonatal TREC kit for detection of T-cell receptor excision circles (TRECs) from NBS dried blood spots for the identification of known SCID patients in Victoria...
September 1, 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/28854233/protective-capacity-of-neutralizing-and-non-neutralizing-antibodies-against-glycoprotein-b-of-cytomegalovirus
#7
Anna Bootz, Astrid Karbach, Johannes Spindler, Barbara Kropff, Nina Reuter, Heinrich Sticht, Thomas H Winkler, William J Britt, Michael Mach
Human cytomegalovirus (HCMV) is an important, ubiquitous pathogen that causes severe clinical disease in immunocompromised individuals, such as organ transplant recipients and infants infected in utero. Antiviral chemotherapy remains problematic due to toxicity of the available compounds and the emergence of viruses resistant to available antiviral therapies. Antiviral antibodies could represent a valuable alternative strategy to limit the clinical consequences of viral disease in patients. The envelope glycoprotein B (gB) of HCMV is a major antigen for the induction of virus neutralizing antibodies...
August 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28851294/landscape-review-of-current-hiv-kick-and-kill-cure-research-some-kicking-not-enough-killing
#8
REVIEW
Kristian Thorlund, Marc S Horwitz, Brian T Fife, Richard Lester, D William Cameron
BACKGROUND: Current antiretroviral therapy (ART) used to treat human immunodeficiency virus (HIV) patients is life-long because it only suppresses de novo infections. Recent efforts to eliminate HIV have tested the ability of a number of agents to reactivate ('Kick') the well-known latent reservoir. This approach is rooted in the assumption that once these cells are reactivated the host's immune system itself will eliminate ('Kill') the virus. While many agents have been shown to reactivate large quantities of the latent reservoir, the impact on the size of the latent reservoir has been negligible...
August 29, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28842720/a-map-of-human-circular-rnas-in-clinically-relevant-tissues
#9
Philipp G Maass, Petar Glažar, Sebastian Memczak, Gunnar Dittmar, Irene Hollfinger, Luisa Schreyer, Aisha V Sauer, Okan Toka, Alessandro Aiuti, Friedrich C Luft, Nikolaus Rajewsky
Cellular circular RNAs (circRNAs) are generated by head-to-tail splicing and are present in all multicellular organisms studied so far. Recently, circRNAs have emerged as a large class of RNA which can function as post-transcriptional regulators. It has also been shown that many circRNAs are tissue- and stage-specifically expressed. Moreover, the unusual stability and expression specificity make circRNAs important candidates for clinical biomarker research. Here, we present a circRNA expression resource of 20 human tissues highly relevant to disease-related research: vascular smooth muscle cells (VSMCs), human umbilical vein cells (HUVECs), artery endothelial cells (HUAECs), atrium, vena cava, neutrophils, platelets, cerebral cortex, placenta, and samples from mesenchymal stem cell differentiation...
August 25, 2017: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
https://www.readbyqxmd.com/read/28842263/screening-of-an-fda-approved-compound-library-identifies-levosimendan-as-a-novel-anti-hiv-1-agent-that-inhibits-viral-transcription
#10
Tsuyoshi Hayashi, Maxime Jean, Huachao Huang, Sydney Simpson, Netty G Santoso, Jian Zhu
Combination antiretroviral therapy (cART) has been proven to efficiently inhibit ongoing replication of human immunodeficiency virus type 1 (HIV-1), and significantly improve the health outcome in patients of acquired immune deficiency syndrome (AIDS). However, cART is unable to cure HIV-1/AIDS. Even in presence of cART there exists a residual viremia, contributed from the viral reservoirs of latently infected HIV-1 proviruses; this constitutes a major hurdle. Currently, there are multiple strategies aimed at eliminating or permanently silence these HIV-1 latent reservoirs being intensely explored...
August 24, 2017: Antiviral Research
https://www.readbyqxmd.com/read/28840782/comparison-of-three-blood-transfusion-guidelines-applied-to-31-feline-donors-to-minimise-the-risk-of-transfusion-transmissible-infections
#11
Maria Luisa Marenzoni, Stefania Lauzi, Arianna Miglio, Mauro Coletti, Andrea Arbia, Saverio Paltrinieri, Maria Teresa Antognoni
Objectives The increased demand for animal blood transfusions creates the need for an adequate number of donors. At the same time, a high level of blood safety must be guaranteed and different guidelines (GLs) deal with this topic. The aim of this study was to evaluate the appropriateness of different GLs in preventing transfusion-transmissible infections (TTI) in Italian feline blood donors. Methods Blood samples were collected from 31 cats enrolled as blood donors by the owners' voluntary choice over a period of approximately 1 year...
August 1, 2017: Journal of Feline Medicine and Surgery
https://www.readbyqxmd.com/read/28835669/nevirapine-induced-mitochondrial-dysfunction-in-hepg2-cells
#12
Atchara Paemanee, Wannapa Sornjai, Suthathip Kittisenachai, Naraporn Sirinonthanawech, Sittiruk Roytrakul, Jeerang Wongtrakul, Duncan R Smith
Nevirapine (NVP) is a non-nucleoside reverse transcriptase inhibitor frequently used in combination with other antiretroviral agents for highly active antiretroviral therapy (HAART) of patients infected with the human immunodeficiency virus type 1 (HIV-1). However NVP can cause serious, life-threatening complications. Hepatotoxicity is one of the most severe adverse effects, particularly in HIV patients with chronic hepatitis C virus co-infection as these patients can develop liver toxicity after a relatively short course of treatment...
August 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28826773/combined-immunodeficiency-and-atopy-caused-by-a-dominant-negative-mutation-in-caspase-activation-and-recruitment-domain-family-member-11-card11
#13
Harjit Dadi, Tyler A Jones, Daniele Merico, Nigel Sharfe, Adi Ovadia, Yael Schejter, Brenda Reid, Mark Sun, Linda Vong, Adelle Atkinson, Sasson Lavi, Joel L Pomerantz, Chaim M Roifman
BACKGROUND: Combined immunodeficiency (CID) is a T-cell defect frequently presenting with recurrent infections, as well as associated immune dysregulation manifesting as autoimmunity or allergic inflammation. OBJECTIVE: We sought to identify the genetic aberration in 4 related patients with CID, early-onset asthma, eczema, and food allergies, as well as autoimmunity. METHODS: We performed whole-exome sequencing, followed by Sanger confirmation, assessment of the genetic variant effect on cell signaling, and evaluation of the resultant immune function...
August 19, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28826609/a-droplet-digital-pcr-method-for-severe-combined-immunodeficiency-newborn-screening
#14
Noemi Vidal-Folch, Dragana Milosevic, Ramanath Majumdar, Dimitar Gavrilov, Dietrich Matern, Kimiyo Raymond, Piero Rinaldo, Silvia Tortorelli, Roshini S Abraham, Devin Oglesbee
Severe combined immunodeficiency (SCID) benefits from early intervention via hematopoietic cell transplantation to reverse T-cell lymphopenia (TCL). Newborn screening (NBS) programs use T-cell receptor excision circle (TREC) levels to detect SCID. Real-time quantitative PCR is often performed to quantify TRECs in dried blood spots (DBSs) for NBS. Yet, real-time quantitative PCR has inefficiencies necessitating normalization, repeat analyses, or standard curves. To address these issues, we developed a multiplex, droplet digital PCR (ddPCR) method for measuring absolute TREC amounts in one DBS punch...
September 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28822832/combined-immunodeficiency-with-ebv-positive-b-cell-lymphoma-and-epidermodysplasia-verruciformis-due-to-a-novel-homozygous-mutation-in-rasgrp1
#15
Craig D Platt, Ari J Fried, Rodrigo Hoyos-Bachiloglu, G Naheed Usmani, Birgitta Schmidt, Jennifer Whangbo, Roberto Chiarle, Janet Chou, Raif S Geha
RASGRP1 is a guanine-nucleotide-exchange factor essential for MAP-kinase mediated signaling in lymphocytes. We report the second case of RASGRP1 deficiency in a patient with a homozygous nonsense mutation in the catalytic domain of the protein. The patient had epidermodysplasia verruciformis, suggesting a clinically important intrinsic T cell function defect. Like the previously described patient, our proband also presented with CD4(+) T cell lymphopenia, impaired T cell proliferation to mitogens and antigens, reduced NK cell function, and EBV-associated lymphoma...
August 16, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28820708/clinical-spectrum-etiology-and-outcome-of-neurological-disorders-in-the-rural-hospital-of-mosango-the-democratic-republic-of-congo
#16
Deby Mukendi, Jean-Roger Lilo Kalo, Alain Mpanya, Luigi Minikulu, Tharcisse Kayembe, Pascal Lutumba, Barbara Barbé, Philippe Gillet, Jan Jacobs, Harry Van Loen, Cedric P Yansouni, François Chappuis, Raffaella Ravinetto, Kristien Verdonck, Marleen Boelaert, Andrea S Winkler, Emmanuel Bottieau
There is little published information on the epidemiology of neurological disorders in rural Central Africa, although the burden is considered to be substantial. This study aimed to investigate the pattern, etiology, and outcome of neurological disorders in children > 5 years and adults admitted to the rural hospital of Mosango, province of Kwilu, Democratic Republic of Congo, with a focus on severe and treatable infections of the central nervous system (CNS). From September 2012 to January 2015, 351 consecutive patients hospitalized for recent and/or ongoing neurological disorder were prospectively evaluated by a neurologist, subjected to a set of reference diagnostic tests in blood or cerebrospinal fluid, and followed-up for 3-6 months after discharge...
August 14, 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28814173/early-diagnosis-of-severe-combined-immunodeficiency-scid-in-turkey-a-pilot-study
#17
Ceren Can, Şahin Hamilçıkan, Emrah Can
OBJECTIVE: Severe combined immunodeficiency (SCID) is a neonatal emergency. As the T cell receptor excision circles (TREC) test is not cost effective for neonatal screening of SCID in developing countries, this pilot study's objective aimed at identifying preliminary data to enable SCID identification in the general population. METHODS: This observational study was performed in Bagcılar Training and Research Hospital, Istanbul, Turkey. Cord-blood complete blood count (CBC) was recorded in all neonates included in the study...
August 17, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28811575/biological-and-functional-characterization-of-bone-marrow-derived-mesenchymal-stromal-cells-from-patients-affected-by-primary-immunodeficiency
#18
Nadia Starc, Daniela Ingo, Antonella Conforti, Valeria Rossella, Luigi Tomao, Angela Pitisci, Fabiola De Mattia, Immacolata Brigida, Mattia Algeri, Mauro Montanari, Giuseppe Palumbo, Pietro Merli, Paolo Rossi, Alessandro Aiuti, Franco Locatelli, Maria Ester Bernardo
Mesenchymal stromal cells (MSCs) represent a key component of bone marrow (BM) microenvironment and display immune-regulatory properties. We performed a detailed analysis of biological/functional properties of BM-MSCs derived from 33 pediatric patients affected by primary immune-deficiencies (PID-MSCs): 7 Chronic Granulomatous Disease (CGD), 15 Wiskott-Aldrich Syndrome (WAS), 11 Severe Combined Immunodeficiency (SCID). Results were compared with MSCs from 15 age-matched pediatric healthy-donors (HD-MSCs). Clonogenic and proliferative capacity, differentiation ability, immunophenotype, immunomodulatory properties were analyzed...
August 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28808676/efficacy-and-safety-of-doubly-regulated-vaccinia-virus-in-a-mouse-xenograft-model-of-multiple-myeloma
#19
Muneyoshi Futami, Kota Sato, Kanji Miyazaki, Kenshi Suzuki, Takafumi Nakamura, Arinobu Tojo
Multiple myeloma is a malignancy of plasma cells of the bone marrow. Although the prognosis is variable, no curative therapy has been defined. Vaccinia virus infects cancer cells and kills such cells in a variety of ways. These include direct infection, triggering of immunomediated cell death, and vascular collapse. The potential of the vaccinia virus as an anti-tumor therapy has attracted the attention of oncologists. Interestingly, our preliminary experiments revealed that myeloma cells were particularly susceptible to vaccinia virus...
September 15, 2017: Molecular Therapy Oncolytics
https://www.readbyqxmd.com/read/28807057/inhibitory-effects-of-hnf4%C3%AE-on-migration-maltransformation-of-hepatic-progenitors-hnf4%C3%AE-overexpressing-hepatic-progenitors-for-liver-repopulation
#20
Ping Wang, Min Cong, Tianhui Liu, Hufeng Xu, Lin Wang, Guangyong Sun, Aiting Yang, Dong Zhang, Jian Huang, Yameng Sun, Wenshan Zhao, Hong Ma, Jidong Jia, Hong You
BACKGROUND: Although they are expandable in vitro, hepatic progenitors are immature cells and share many immunomarkers with hepatocellular carcinoma, raising potential concerns regarding maltransformation after transplantation. This study investigated the effects of hepatic nuclear factor (HNF) 4α on the proliferation, migration, and maltransformation of hepatic progenitors and determined the feasibility of using these manipulated cells for transplantation. METHODS: The effects of HNF4α on rat hepatic progenitors (i...
August 14, 2017: Stem Cell Research & Therapy
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