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ADA Deficiency

Yuge Wang, Tracy Hwangpo, Maureen P Martin, Nicolas Vince, Ying Qi, Richard J Reynolds, Devin Absher, Xiaojiang Gao, Carol A Ballinger, Peter D Burrows, T Prescott Atkinson, Elizabeth E Brown, Ada Elgavish, Cunren Liu, Mary Carrington, Harry W Schroeder
No abstract text is available yet for this article.
September 21, 2016: Journal of Allergy and Clinical Immunology
Ke Dong, Zhao-Wei Gao, Hui-Zhong Zhang
Autoimmune diseases are characterized by the abnormal immune response against self-tissue, which are caused by the failure of nature immune homeostasis. Nature immune homeostasis represents the normal state of appropriate immune response to nonself-antigen and unresponsiveness to self-antigens. In normal situation, immune homeostasis is regulated by immunosuppressive signal and immunostimulating signal together. Accumulating data have demonstrated that the adenosinergic pathway played key roles in immune suppression and shield body from an excessive inflammatory response...
September 24, 2016: Immunologic Research
Yuliia Kaljas, Chengqian Liu, Maksym Skaldin, Chengxiang Wu, Qing Zhou, Yuanan Lu, Ivona Aksentijevich, Andrey V Zavialov
At sites of inflammation and tumor growth, the local concentration of extracellular adenosine rapidly increases and plays a role in controlling the immune responses of nearby cells. Adenosine deaminases ADA1 and ADA2 (ADAs) decrease the level of adenosine by converting it to inosine, which serves as a negative feedback mechanism. Mutations in the genes encoding ADAs lead to impaired immune function, which suggests a crucial role for ADAs in immune system regulation. It is not clear why humans and other mammals possess two enzymes with adenosine deaminase activity...
September 23, 2016: Cellular and Molecular Life Sciences: CMLS
Julio Gallego-Delgado, Upal Basu-Roy, Maureen Ty, Matilde Alique, Cristina Fernandez-Arias, Alexandru Movila, Pollyanna Gomes, Ada Weinstock, Wenyue Xu, Innocent Edagha, Samuel C Wassmer, Thomas Walther, Marta Ruiz-Ortega, Ana Rodriguez
Cerebral malaria is characterized by cytoadhesion of Plasmodium falciparum-infected red blood cells (Pf-iRBCs) to endothelial cells in the brain, disruption of the blood-brain barrier, and cerebral microhemorrhages. No available antimalarial drugs specifically target the endothelial disruptions underlying this complication, which is responsible for the majority of malaria-associated deaths. Here, we have demonstrated that ruptured Pf-iRBCs induce activation of β-catenin, leading to disruption of inter-endothelial cell junctions in human brain microvascular endothelial cells (HBMECs)...
October 3, 2016: Journal of Clinical Investigation
Karima Ait-Aissa, Joseph Hockenberry, David Gutterman, Aron Geurts, Andreas Beyer
OBJECTIVE: Flow mediated dilation (FMD) is the most physiological relevant form of endothelial-mediated vasodilation. Our laboratory has previously shown that telomerase, a ribo-nucleoprotein that counteracts telomere shortening, has a protective effect on endothelial function under conditions of oxidative stress in the human microcirculation. In the presence of coronary artery disease, decreased telomerase activity contributes to a shift in the mediator of FMD from atheroprotective nitric oxide (NO) to pro-inflammatory and atherogenic hydrogen peroxide (H2O2)...
September 2016: Journal of Hypertension
Sadık Volkan Emren, Mustafa Aldemir, Fatih Ada
BACKGROUND: Deficiency of vitamin D is known to be effective in the development of hypertension, coronary artery disease, myocardial infarction, and stroke. Deficiency of vitamin D was also shown to be associated with new onset atrial fibrillation (AF) by activating the renin-angiotensin system. This study investigated whether or not levels of vitamin D are effective in the development of AF after coronary artery bypass grafting (CABG) surgery. METHODS: A total of 283 patients undergoing CABG were included in this study...
2016: Heart Surgery Forum
Kathryn V Whitmore, Hubert B Gaspar
Adenosine deaminase (ADA) deficiency is best known as a form of severe combined immunodeficiency (SCID) that results from mutations in the gene encoding ADA. Affected patients present with clinical and immunological manifestations typical of a SCID. Therapies are currently available that can target these immunological disturbances and treated patients show varying degrees of clinical improvement. However, there is now a growing body of evidence that deficiency of ADA has significant impact on non-immunological organ systems...
2016: Frontiers in Immunology
Kittipong Maneechotesuwan, Kanda Kasetsinsombat, Adisak Wongkajornsilp, Peter J Barnes
BACKGROUND: Adenosine deaminase (ADA) and osteopontin (OPN) may play opposing roles in the pathogenesis of COPD. Deficiency of ADA results in enhanced adenosine signaling which up-regulates OPN expression. Although statins suppress OPN in cancer cells, little is known about their effects on ADA and OPN in COPD patients. METHODS: We extended a previous randomized double-blind placebo crossover study to investigate the effects of simvastatin (20 mg/day) on sputum ADA and OPN expression and explored the underlying signaling pathways involved by conducting in vitro experiments with cigarette smoke extract (CSE)-treated monocyte-derived macrophages (MDM) from COPD patients and healthy subjects...
2016: Respiratory Research
Katrin Peschke, Martin Achleitner, Kathrin Frenzel, Alexander Gerbaulet, Servi Remzi Ada, Nicolas Zeller, Stefan Lienenklaus, Mathias Lesche, Claire Poulet, Ronald Naumann, Andreas Dahl, Ursula Ravens, Claudia Günther, Werner Müller, Klaus-Peter Knobeloch, Marco Prinz, Axel Roers, Rayk Behrendt
Defects of the intracellular enzyme 3' repair exonuclease 1 (Trex1) cause the rare autoimmune condition Aicardi-Goutières syndrome and are associated with systemic lupus erythematosus. Trex1(-/-) mice develop type I IFN-driven autoimmunity, resulting from activation of the cytoplasmic DNA sensor cyclic GMP-AMP synthase by a nucleic acid substrate of Trex1 that remains unknown. To identify cell types responsible for initiation of autoimmunity, we generated conditional Trex1 knockout mice. Loss of Trex1 in dendritic cells was sufficient to cause IFN release and autoimmunity, whereas Trex1-deficient keratinocytes and microglia produced IFN but did not induce inflammation...
September 15, 2016: Journal of Immunology: Official Journal of the American Association of Immunologists
Takashi K Kishimoto, Joseph D Ferrari, Robert A LaMothe, Pallavi N Kolte, Aaron P Griset, Conlin O'Neil, Victor Chan, Erica Browning, Aditi Chalishazar, William Kuhlman, Fen-Ni Fu, Nelly Viseux, David H Altreuter, Lloyd Johnston, Roberto A Maldonado
The development of antidrug antibodies (ADAs) is a common cause for the failure of biotherapeutic treatments and adverse hypersensitivity reactions. Here we demonstrate that poly(lactic-co-glycolic acid) (PLGA) nanoparticles carrying rapamycin, but not free rapamycin, are capable of inducing durable immunological tolerance to co-administered proteins that is characterized by the induction of tolerogenic dendritic cells, an increase in regulatory T cells, a reduction in B cell activation and germinal centre formation, and the inhibition of antigen-specific hypersensitivity reactions...
October 2016: Nature Nanotechnology
Xiao Na Ge, Sung Gil Ha, Yana G Greenberg, Amrita Rao, Idil Bastan, Ada G Blidner, Savita P Rao, Gabriel A Rabinovich, P Sriramarao
Galectin-1 (Gal-1), a glycan-binding protein with broad antiinflammatory activities, functions as a proresolving mediator in autoimmune and chronic inflammatory disorders. However, its role in allergic airway inflammation has not yet been elucidated. We evaluated the effects of Gal-1 on eosinophil function and its role in a mouse model of allergic asthma. Allergen exposure resulted in airway recruitment of Gal-1-expressing inflammatory cells, including eosinophils, as well as increased Gal-1 in extracellular spaces in the lungs...
August 16, 2016: Proceedings of the National Academy of Sciences of the United States of America
Jonathan Hoggatt
Adenosine deaminase (ADA) deficiency results in the accumulation of toxic metabolites that destroy the immune system, causing severe combined immunodeficiency (ADA-SCID), often referred to as the "bubble boy" disease. Strimvelis is a European Medicines Agency approved gene therapy for ADA-SCID patients without a suitable bone marrow donor.
July 14, 2016: Cell
Ada W Y Leung, Ian Backstrom, Marcel B Bally
1 Experimental Therapeutics, BC Cancer Research Centre, Vancouver, BC, CanadaSulfonation is one of the most abundant cellular reactions modifying a wide range of xenobiotics as well as endogenous molecules which regulate important biological processes including blood clotting, formation of connective tissues, and functionality of secreted proteins, hormones, and signaling molecules. Sulfonation is ubiquitous in all tissues and widespread in nature (plants, animals, and microorganisms). Although sulfoconjugates were discovered over a century ago when, in 1875, Baumann isolated phenyl sulfate in the urine of a patient given phenol as an antiseptic, the significance of sulfonation and its roles in human diseases have been underappreciated until recent years...
June 14, 2016: Oncotarget
Vanja Sisirak, Benjamin Sally, Vivette D'Agati, Wilnelly Martinez-Ortiz, Z Birsin Özçakar, Joseph David, Ali Rashidfarrokhi, Ada Yeste, Casandra Panea, Asiya Seema Chida, Milena Bogunovic, Ivaylo I Ivanov, Francisco J Quintana, Inaki Sanz, Keith B Elkon, Mustafa Tekin, Fatoş Yalçınkaya, Timothy J Cardozo, Robert M Clancy, Jill P Buyon, Boris Reizis
Antibodies to DNA and chromatin drive autoimmunity in systemic lupus erythematosus (SLE). Null mutations and hypomorphic variants of the secreted deoxyribonuclease DNASE1L3 are linked to familial and sporadic SLE, respectively. We report that DNASE1L3-deficient mice rapidly develop autoantibodies to DNA and chromatin, followed by an SLE-like disease. Circulating DNASE1L3 is produced by dendritic cells and macrophages, and its levels inversely correlate with anti-DNA antibody response. DNASE1L3 is uniquely capable of digesting chromatin in microparticles released from apoptotic cells...
June 30, 2016: Cell
Joshua Schimmer, Steven Breazzano
GlaxoSmithKline's (GSK) and partner San Raffaele Telethon Institute for Gene Therapy's recent positive European approval for Strimvelis for treatment of severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID) represents the second EU-approved gene therapy and the first γ-retrovirus and first ex vivo gene therapy. In this article we discuss the significance and implications of this historic approval for the broader gene therapy field.
June 2016: Human Gene Therapy. Clinical Development
Behdad Navabi, Julia Elizabeth Mainwaring Upton
BACKGROUND: Eosinophilia is not an uncommon clinical finding. However, diagnosis of its cause can be a dilemma once common culprits, namely infection, allergy and reactive causes are excluded. Primary immunodeficiency disorders (PID) are among known differentials of eosinophilia. However, the list of PIDs typically reported with eosinophilia is small and the literature lacks an inclusive list of PIDs which have been reported with eosinophilia. This motivated us to review the literature for all PIDs which have been described to have elevated eosinophils as this may contribute to an earlier diagnosis of PID and further the understanding of eosinophilia...
2016: Allergy, Asthma, and Clinical Immunology
Rodrigo Liberal, Charlotte R Grant, Yun Ma, Eva Csizmadia, Zhenghui Gordon Jiang, Michael A Heneghan, Eric U Yee, Giorgina Mieli-Vergani, Diego Vergani, Simon C Robson, Maria Serena Longhi
BACKGROUND & AIMS: T-helper-type 17 (Th17) cells are involved in autoimmune tissue damage. CD39 is an ectonucleotidase that catalyzes extracellular ATP/ADP hydrolysis, culminating in the generation of immunosuppressive adenosine. Functional CD39 expression confers immunosuppressive properties upon immune cells. As the proportion of CD39 lymphocytes is decreased in juvenile autoimmune liver disease (AILD), we have explored whether decreased CD39 expression is present on Th17 cells and whether this phenomenon is associated with heightened effector function and inflammation...
August 2016: Journal of Autoimmunity
Maria Pia Cicalese, Francesca Ferrua, Laura Castagnaro, Roberta Pajno, Federica Barzaghi, Stefania Giannelli, Francesca Dionisio, Immacolata Brigida, Marco Bonopane, Miriam Casiraghi, Antonella Tabucchi, Filippo Carlucci, Eyal Grunebaum, Mehdi Adeli, Robbert G Bredius, Jennifer M Puck, Polina Stepensky, Ilhan Tezcan, Katie Rolfe, Erika De Boever, Rickey R Reinhardt, Jonathan Appleby, Fabio Ciceri, Maria Grazia Roncarolo, Alessandro Aiuti
Adenosine deaminase (ADA) deficiency is a rare, autosomal-recessive systemic metabolic disease characterized by severe combined immunodeficiency (SCID). The treatment of choice for ADA-deficient SCID (ADA-SCID) is hematopoietic stem cell transplant from an HLA-matched sibling donor, although <25% of patients have such a donor available. Enzyme replacement therapy (ERT) partially and temporarily relieves immunodeficiency. We investigated the medium-term outcome of gene therapy (GT) in 18 patients with ADA-SCID for whom an HLA-identical family donor was not available; most were not responding well to ERT...
July 7, 2016: Blood
Caroline Y Kuo, Donald B Kohn
The use of gene therapy in the treatment of primary immune deficiencies (PID) has advanced significantly in the last decade. Clinical trials for X-linked severe combined immunodeficiency, adenosine deaminase deficiency (ADA), chronic granulomatous disease, and Wiskott-Aldrich syndrome have demonstrated that gene transfer into hematopoietic stem cells and autologous transplant can result in clinical improvement and is curative for many patients. Unfortunately, early clinical trials were complicated by vector-related insertional mutagenic events for several diseases with the exception of ADA-deficiency SCID...
May 2016: Current Allergy and Asthma Reports
Angela Pipitone, Donna B Raval, Jessica Duis, Hilary Vernon, Regina Martin, Ada Hamosh, David Valle, Meral Gunay-Aygun
3-hydroxy-3-methylglutaric (HMG)-CoA lyase is required for ketogenesis and leucine degradation. Patients with HMG-CoA lyase deficiency typically present with hypoketotic hypoglycemia and metabolic acidosis, which can be fatal if untreated. The patient is a 28-year-old female with HMG-CoA lyase deficiency who presented at 4 weeks gestation for prenatal care. Protein intake as well as carnitine supplementation were gradually increased to support maternal and fetal demands up to 65 g per day for protein and 80 mg/kg/day for carnitine...
June 2016: American Journal of Medical Genetics. Part A
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