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Severe combined immunodeficiency

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https://www.readbyqxmd.com/read/28091639/gold-nanoparticles-stabilized-by-cationic-carbosilane-dendrons-synthesis-and-biological-properties
#1
Cornelia E Peña-González, Elzbieta Pedziwiatr-Werbicka, Dzmitry Shcharbin, Carlos Guerrero-Beltrán, Viktar Abashkin, Svetlana Loznikova, José L Jiménez, M Ángeles Muñoz-Fernández, Maria Bryszewska, Rafael Gómez, Javier Sánchez-Nieves, F Javier de la Mata
Gold nanoparticles (AuNPs) and polycationic macromolecules are used as gene carriers. Their behaviour is dependent on several factors, such as the size and type of the framework, charge, etc. We have combined both types of systems and prepared AuNPs covered with cationic carbosilane dendrons with the aim to evaluate their biocompatibility. Water soluble dendronized cationic AuNPs were prepared following a straightforward procedure from dendrons, a gold precursor and a reducing agent in water and were characterized by (1)H NMR, transmission electron microscopy (TEM), dynamic light scattering (DLS), thermogravimetric analysis (TGA), ultraviolet spectroscopy (UV), and zeta potential (ZP)...
January 16, 2017: Dalton Transactions: An International Journal of Inorganic Chemistry
https://www.readbyqxmd.com/read/28090315/chronic-mucocutaneous-candidiasis-disease-associated-with-inborn-errors-of-il-17-immunity
#2
REVIEW
Satoshi Okada, Anne Puel, Jean-Laurent Casanova, Masao Kobayashi
Chronic mucocutaneous candidiasis (CMC) is characterized by recurrent or persistent infections affecting the nails, skin and oral and genital mucosae caused by Candida spp., mainly Candida albicans. CMC is an infectious phenotype in patients with inherited or acquired T-cell deficiency. Patients with autosomal-dominant (AD) hyper IgE syndrome (HIES), AD signal transducer and activator of transcription 1 (STAT1) gain-of-function, autosomal-recessive (AR) deficiencies in interleukin (IL)-12 receptor β1 (IL-12Rβ1), IL-12p40, caspase recruitment domain-containing protein 9 (CARD9) or retinoic acid-related orphan receptor γT (RORγT) or AR autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) develop CMC as a major infectious phenotype that is categorized as Syndromic CMC...
December 2016: Clinical & Translational Immunology
https://www.readbyqxmd.com/read/28087698/inhibition-of-trpml1-by-lysosomal-adenosine-involved-in-severe-combined-immunodeficiency-diseases
#3
Xi Zoë Zhong, Yuanjie Zou, Xue Sun, Gaofeng Dong, Qi Cao, Aditya Pandey, Jan K Rainey, Xiaojuan Zhu, Xian-Ping Dong
Impaired adenosine homeostasis has been associated with numerous human diseases. Lysosomes are referred to as the cellular recycling centers which generate adenosine by breaking down nucleic acids or ATP. Recent studies have suggested that lysosomal adenosine overload causes lysosome defects which phenocopy patients with mutations in TRPML1, a lysosomal Ca2+ channel, suggesting that lysosomal adenosine overload may impair TRPML1 and then lead to subsequent lysosomal dysfunction. In this study, we demonstrate that lysosomal adenosine is elevated by deleting adenosine deaminase (ADA), an enzyme responsible for adenosine degradation...
January 13, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28077679/crispr-cas9-gene-repair-of-hematopoietic-stem-cells-from-patients-with-x-linked-chronic-granulomatous-disease
#4
Suk See De Ravin, Linhong Li, Xiaolin Wu, Uimook Choi, Cornell Allen, Sherry Koontz, Janet Lee, Narda Theobald-Whiting, Jessica Chu, Mary Garofalo, Colin Sweeney, Lela Kardava, Susan Moir, Angelia Viley, Pachai Natarajan, Ling Su, Douglas Kuhns, Kol A Zarember, Madhusudan V Peshwa, Harry L Malech
Gene repair of CD34(+) hematopoietic stem and progenitor cells (HSPCs) may avoid problems associated with gene therapy, such as vector-related mutagenesis and dysregulated transgene expression. We used CRISPR (clustered regularly interspaced short palindromic repeat)/Cas9 (CRISPR-associated 9) to repair a mutation in the CYBB gene of CD34(+) HSPCs from patients with the immunodeficiency disorder X-linked chronic granulomatous disease (X-CGD). Sequence-confirmed repair of >20% of HSPCs from X-CGD patients restored the function of NADPH (nicotinamide adenine dinucleotide phosphate) oxidase and superoxide radical production in myeloid cells differentiated from these progenitor cells in vitro...
January 11, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/28077132/foxn1-deficient-nude-severe-combined-immunodeficiency
#5
REVIEW
Ioanna A Rota, Fatima Dhalla
Nude severe combined immunodeficiency is a rare inherited disease caused by autosomal recessive loss-of-function mutations in FOXN1. This gene encodes a transcription factor essential for the development of the thymus, the primary lymphoid organ that supports T-cell development and selection. To date nine cases have been reported presenting with the clinical triad of absent thymus resulting in severe T-cell immunodeficiency, congenital alopecia universalis and nail dystrophy. Diagnosis relies on testing for FOXN1 mutations, which allows genetic counselling and guides therapeutic management...
January 11, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28074903/alterations-in-the-brain-adenosine-metabolism-cause-behavioral-and-neurological-impairment-in-ada-deficient-mice-and-patients
#6
Aisha V Sauer, Raisa Jofra Hernandez, Francesca Fumagalli, Veronica Bianchi, Pietro L Poliani, Chiara Dallatomasina, Elisa Riboni, Letterio S Politi, Antonella Tabucchi, Filippo Carlucci, Miriam Casiraghi, Nicola Carriglio, Manuela Cominelli, Carlo Alberto Forcellini, Federica Barzaghi, Francesca Ferrua, Fabio Minicucci, Stefania Medaglini, Letizia Leocani, Giancarlo la Marca, Lucia D Notarangelo, Chiara Azzari, Giancarlo Comi, Cristina Baldoli, Sabrina Canale, Maria Sessa, Patrizia D'Adamo, Alessandro Aiuti
Adenosine Deaminase (ADA) deficiency is an autosomal recessive variant of severe combined immunodeficiency (SCID) caused by systemic accumulation of ADA substrates. Neurological and behavioral abnormalities observed in ADA-SCID patients surviving after stem cell transplantation or gene therapy represent an unresolved enigma in the field. We found significant neurological and cognitive alterations in untreated ADA-SCID patients as well as in two groups of patients after short- and long-term enzyme replacement therapy with PEG-ADA...
January 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28072965/-development-of-newborn-screening-for-severe-combined-immunodeficiency
#7
B J Sun, J Q Sun
No abstract text is available yet for this article.
January 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28070732/the-clinical-and-laboratory-spectrum-of-dedicator-of-cytokinesis-8-immunodeficiency-syndrome-in-patients-with-a-unique-mutation
#8
Arnon Broides, Amarilla B Mandola, Jacov Levy, Baruch Yerushalmi, Vered Pinsk, Michal Eldan, George Shubinsky, Nurit Hadad, Rachel Levy, Amit Nahum, Miriam Ben-Harosh, Atar Lev, Amos Simon, Raz Somech
Mutations in the dedicator of cytokinesis 8 (DOCK8) gene cause a combined immunodeficiency usually diagnosed as autosomal recessive hyper IgE syndrome. We sought to reveal the varying manifestations in patients with a unique mutation in DOCK8 gene by a retrospective medical record review. Ten patients from five consanguineous families and three tribes were included. Seven patients were homozygous for the c.C5134A, p.S1711X mutation, and the remaining three patients were their siblings manifesting hyper IgE syndrome features without a genetic diagnosis...
January 10, 2017: Immunologic Research
https://www.readbyqxmd.com/read/28068510/current-knowledge-and-priorities-for-future-research-in-late-effects-after-hematopoietic-stem-cell-transplantation-hct-for-severe-combined-immunodeficiency-patients-a-consensus-statement-from-the-second-pediatric-blood-and-marrow-transplant-consortium-international
#9
REVIEW
Jennifer Heimall, Jennifer Puck, Rebecca Buckley, Thomas A Fleisher, Andrew R Gennery, Benedicte Neven, Mary Slatter, Elie Haddad, Luigi D Notarangelo, K Scott Baker, Andrew C Dietz, Christine Duncan, Michael A Pulsipher, Mort J Cowan
Severe combined immunodeficiency (SCID) is 1 of the most common indications for pediatric hematopoietic cell transplantation (HCT) in patients with primary immunodeficiency. Historically, SCID was diagnosed in infants who presented with opportunistic infections within the first year of life. With newborn screening (NBS) for SCID in most of the United States, the majority of infants with SCID are now diagnosed and treated in the first 3.5 months of life; however, in the rest of the world, the lack of NBS means that most infants with SCID still present with infections...
January 6, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28063993/inhibition-of-enterovirus-71-replication-by-an-%C3%AE-hydroxy-nitrile-derivative-nk-1-9k
#10
Yaxin Wang, Lin Cao, Yangyang Zhai, Jiaming Ma, Quandeng Nie, Ting Li, Zheng Yin, Yuna Sun, Luqing Shang
Enterovirus 71 (EV71) is one of the major etiological agents of human hand-foot-and-mouth disease (HFMD) worldwide. EV71 infection in young children and people with immunodeficiency causes severe symptoms with a high fatality rates. However, there is still no approved drugs to treat such infections. Based on our previous report of a peptide-aldehyde anti-EV71 protease, we present here a highly specific α-hydroxy-nitrile derivative NK-1.9k, which inhibited the proliferation of multiple EV71 strains and coxsackievirus A16 (CVA16) in various cells with EC50 of 37...
January 4, 2017: Antiviral Research
https://www.readbyqxmd.com/read/28057254/hiv-and-nonischemic-heart-disease
#11
REVIEW
Pravin Manga, Keir McCutcheon, Nqoba Tsabedze, Ahmed Vachiat, Don Zachariah
Human immunodeficiency virus (HIV)-associated heart disease encompasses a broad spectrum of diseases. HIV infection may involve the pericardium, myocardium, coronary arteries, pulmonary vasculature, and valves, as well as the systemic vasculature. Access to combination antiretroviral therapy, as well as health resources, has had a significant influence on the prevalence and severity of the effects on each cardiac structure. Investigations over the recent past have improved our understanding of the epidemiology and pathophysiology of HIV-associated cardiovascular disease...
January 3, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28057195/the-persistent-problem-of-late-hiv-diagnosis-in-people-with-aids-a-population-based-study-in-italy-1999-2013
#12
M Taborelli, S Virdone, L Camoni, V Regine, A Zucchetto, L Frova, E Grande, S Boros, L Dal Maso, P De Paoli, D Serraino, B Suligoi
OBJECTIVES: Despite the wide accessibility to free human immunodeficiency virus (HIV) testing and combined antiretroviral therapy (cART), late HIV diagnosis remains common with severe consequences at individual and population level. This study aimed to describe trends of late HIV testing and to identify their determinants in the late cART era in Italy. STUDY DESIGN: We conducted a population-based, nationwide analysis of the Italian National AIDS Registry data (AIDS - acquired immune deficiency syndrome) for the years 1999-2013...
January 2017: Public Health
https://www.readbyqxmd.com/read/28056549/pegylated-long-circulating-liposomes-deliver-homoharringtonine-to-suppress-multiple-myeloma-cancer-stem-cells
#13
Miao Li, Fangfang Shi, Xiong Fei, Songyan Wu, Di Wu, Meng Pan, Shouhua Luo, Ning Gu, Jun Dou
The goal of this investigation was to evaluate the inhibiting effect of high proportion polyethyleneglycol of long-circulating homoharringtonine liposomes on RPMI8226 multiple myeloma cancer stem cells. The CD138(-)CD34(-) multiple myeloma cancer stem cells isolated from RPMI8226 cell line using magnetic activated cell sorting system were, respectively, incubated with the optimized formulation of polyethyleneglycol of long-circulating homoharringtonine liposomes and the homoharringtonine in vitro, and the multiple myeloma cancer stem cell proliferation, colony formation, and cell cycle were analyzed...
January 1, 2017: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/28056294/-the-understanding-of-epstein-barr-virus-associated-lymphoproliferative-disorder
#14
X G Zhou, Y L Zhang, J L Xie, Y H Huang, Y Y Zheng, W S Li, H Chen, F Liu, H X Pan, P Wei, Z Wang, Y C Hu, K Y Yang, H L Xiao, M J Wu, W H Yin, K Y Mei, G Chen, X C Yan, G Meng, G Xu, J Li, S F Tian, J Zhu, Y Q Song, W J Zhang
In recent years, there are increasing articles concerning Epstein-Barr virus associated lymphoproliferative disorder (EBV+ LPD), and the name of EBV+ LPD is used widely. However, the meaning of EBV+ LPD used is not the same, which triggered confusion of the understanding and obstacles of the communication. In order to solve this problem. Literature was reviewed with combination of our cases to clarify the concept of EBV+ LPD and to expound our understanding about it. In general, it is currently accepted that EBV+ LPD refers to a spectrum of lymphoid tissue diseases with EBV infection, including hyperplasia, borderline lesions, and neoplastic diseases...
December 8, 2016: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/28052027/estrogen-receptor-%C3%AE-ligation-inhibits-hodgkin-lymphoma-growth-by-inducing-autophagy
#15
Marina Pierdominici, Angela Maselli, Silvia L Locatelli, Laura Ciarlo, Giuseppa Careddu, Mario Patrizio, Barbara Ascione, Antonella Tinari, Carmelo Carlo-Stella, Walter Malorni, Paola Matarrese, Elena Ortona
Although Hodgkin lymphoma (HL) is curable with current therapy, at least 20% of patients relapse or fail to make complete remission. In addition, patients who achieve long-term disease-free survival frequently undergo infertility, secondary malignancies, and cardiac failure, which are related to chemotherapeutic agents and radiation therapies. Hence, new therapeutic strategies able to counteract the HL disease in this important patient population are still a matter of study. Estrogens, in particular 17β-estradiol (E2), have been suggested to play a role in lymphoma cell homeostasis by estrogen receptors (ER) β activation...
December 28, 2016: Oncotarget
https://www.readbyqxmd.com/read/28051797/%C3%A2-sofosbuvir-and-daclatasvir-in-mono-and-hiv-coinfected-patients-with-recurrent-hepatitis-c-after-liver-transplant
#16
Lluís Castells, Jordi Llaneras, Isabel Campos-Varela, Itxarone Bilbao, Manel Crespo, Oscar Len, Francisco Rodríguez-Frías, Ramon Charco, Teresa Salcedo, Juan Ignacio Esteban, Rafael Esteban-Mur
:  Background and aims. Pegylated interferon (Peg-INF) and ribavirin (RBV) based therapy is suboptimal and poorly tolerated. We evaluated the safety, tolerability and efficacy of a 24-week course of sofosbuvir plus daclatasvir without ribavirin for the treatment of hepatitis C virus (HCV) recurrence after liver transplantation (LT) in both HCV-monoinfected and human immunodeficiency virus (HIV)-HCV coinfected patients. MATERIAL AND METHODS: We retrospectively evaluated 22 consecutive adult LT recipients (16 monoinfected and 6 coinfected with HIV) who received a 24-week course of sofosbuvir plus daclatasvir treatment under an international compassionate access program...
January 2017: Annals of Hepatology
https://www.readbyqxmd.com/read/28048423/we-fg-bra-08-potential-role-of-the-glycolytic-oscillator-in-acute-hypoxia-in-tumors
#17
L Che Fru, E Adamson, D Campos, S Fain, S Jacques, A van der Kogel, K Nickel, C Song, R Kimple, M Kissick
PURPOSE: Oscillatory dynamics in acute hypoxia have been observed, but poorly understood. They have mostly been attributed to vascular perturbations, but no link has yet been made to metabolic causes. We set out to determine the fundamental frequencies and test for coherence in tumor oxygen dynamics and spatial properties. METHODS: Severe combined immunodeficient (SCID) mice were inoculated onto bilateral flanks with human derived head and neck carcinoma (UW-SCC22) cell line xenografts...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28043600/benefits-and-challenges-of-molecular-diagnostics-for-childhood-tuberculosis
#18
Cristina Gutierrez
Expanding tuberculosis (TB)-diagnostic services, including access to rapid tests, is a World Health Organization (WHO) strategy to accelerate progress toward ending TB. Faster and more sensitive molecular tests capable of diagnosing TB and drug-resistant TB have the technical capacity to address limitations associated with smears and cultures by increasing accuracy and shortening turnaround times as compared with those of these conventional laboratory methods. Nucleic acid amplification assays used to detect and analyze Mycobacterium tuberculosis (MTB)-complex nucleic acids can be used directly on specimens from patients suspected of having TB...
December 2016: International Journal of Mycobacteriology
https://www.readbyqxmd.com/read/28042947/efficient-transduction-of-human-and-rhesus-macaque-primary-t-cells-by-a-modified-human-immunodeficiency-virus-type-1-hiv-1-based-lentiviral-vector
#19
Huan He, Jing Xue, Weiming Wang, Lihong Liu, Chaobaihui Ye, Zhe Cong, Jason Kimata, Chuan Qin, Paul Zhou
HIV-1-based lentiviral vectors efficiently transduce genes to human, but not rhesus, primary T cells and hematopoietic stem cells (HSCs). The poor transduction of HIV-1 vectors to rhesus cells is mainly due to species-specific restriction factors such as rhesus TRIM5α. Previously, several strategies to modify HIV-1 vectors were developed to overcome rhesus TRIM5α restriction. While the modified HIV-1 vectors efficiently transduce rhesus HSCs, they remain suboptimal for rhesus primary T cells. Recently, HIV-1 variants that encode combinations of LNEIE mutations in capsid (CA) protein and SIVmac239 Vif were found to replicate efficiently in rhesus primary T cells...
January 2, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28040777/genome-report-identification-and-validation-of-antigenic-proteins-from-pajaroellobacter-abortibovis-using-de-novo-genome-sequence-assembly-and-reverse-vaccinology
#20
Bryan T Welly, Michael R Miller, Jeffrey L Stott, Myra T Blanchard, Alma D Islas-Trejo, Sean M O Rourke, Amy E Young, Juan F Medrano, Alison L Van Eenennaam
Epizootic bovine abortion (EBA), or "foothill abortion", is the leading cause of beef cattle abortion in California and has also been reported in Nevada and Oregon. In the 1970's, the soft-shelled tick Ornithodoros coriaceus, or "pajaroello tick", was confirmed as the disease-transmitting vector. In 2005, a novel Deltaproteobacterium was discovered as the etiologic agent of EBA (aoEBA), recently named Pajaroellobacter abortibovis This organism cannot be grown in culture using traditional microbiological techniques; it can only be grown in experimentally-infected severe combined immunodeficient (SCID) mice...
December 30, 2016: G3: Genes—Genomes—Genetics
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