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Adenosine deaminase deficiency: a review [PDF]

open access: yesOrphanet Journal of Rare Diseases, 2018
Adenosine deaminase (ADA) deficiency leads to an accumulation of toxic purine degradation by-products, most potently affecting lymphocytes, leading to adenosine deaminase-deficient severe combined immunodeficiency.
Aisling M. Flinn, Andrew R. Gennery
doaj   +5 more sources

Deficiency of Adenosine Deaminase 2 [PDF]

open access: yesTurkish Journal of Hematology
Adenosine deaminase 2 (ADA2) deficiency is an autosomal recessively inherited autoinflammatory disorder caused by loss-of-function mutations in the ADA2 gene. Although the pathogenesis involves the triggering of a proinflammatory cascade due to increased
Çağrı Coşkun, Şule Ünal
doaj   +4 more sources

Serum adenosine deaminase, catalase and carbonic anhydrase activities in patients with bladder cancer [PDF]

open access: yesClinics, 2012
OBJECTIVES: The relationship between adenosine deaminase and various cancers has been investigated in several studies. However, serum adenosine deaminase activity and carbonic anhydrase and catalase activities in patients with bladder cancer have not ...
Necip Pirinççi   +7 more
doaj   +4 more sources

The ADA*2 allele of the adenosine deaminase gene (20q13.11) and recurrent spontaneous abortions: an age-dependent association [PDF]

open access: yesClinics, 2011
OBJECTIVE: Adenosine deaminase acts on adenosine and deoxyadenosine metabolism and modulates the immune response. The adenosine deaminase G22A polymorphism (20q.11.33) influences the level of adenosine deaminase enzyme expression, which seems to play a ...
Daniela Prudente Teixeira Nunes   +5 more
doaj   +6 more sources

Pleural effusion adenosine deaminase: a candidate biomarker to discriminate between Gram-negative and Gram-positive bacterial infections of the pleural space [PDF]

open access: yesClinics, 2016
OBJECTIVES: Delay in the treatment of pleural infection may contribute to its high mortality. In this retrospective study, we aimed to evaluate the diagnostic accuracy of pleural adenosine deaminase in discrimination between Gram-negative and Gram ...
Ruolin Li   +3 more
doaj   +5 more sources

Adenosine-Metabolizing Enzymes, Adenosine Kinase and Adenosine Deaminase, in Cancer

open access: yesBiomolecules, 2022
The immunosuppressive effect of adenosine in the microenvironment of a tumor is well established. Presently, researchers are developing approaches in immune therapy that target inhibition of adenosine or its signaling such as CD39 or CD73 inhibiting ...
Galina Zhulai   +3 more
doaj   +2 more sources

Deficiency of adenosine deaminase 2 leading to recurrent Hodgkin lymphoma: A case report [PDF]

open access: yesSAGE Open Medical Case Reports
Deficiency of adenosine deaminase 2 is a rare monogenic multi-organ disease of children and less often adults resulting from mutations in the adenosine deaminase 2 gene.
Anas Manhal   +7 more
doaj   +2 more sources

Determination of serum adenosine deaminase and xanthine oxidase levels in patients with crimean-congo hemorrhagic fever [PDF]

open access: yesClinics, 2010
OBJECTIVE: Crimean-Congo hemorrhagic fever is an acute viral hemorrhagic fever with a high mortality rate. Despite increasing knowledge about hemorrhagic fever viruses, little is known about the pathogenesis of Crimean-Congo hemorrhagic fever.
V. Kenan Celik   +5 more
doaj   +6 more sources

Adenosine deaminase acting on RNA 1 (ADAR1) as crucial regulators in cardiovascular diseases: structures, pathogenesis, and potential therapeutic approach

open access: yesFrontiers in Pharmacology, 2023
Cardiovascular diseases (CVDs) are a group of diseases that have a major impact on global health and are the leading cause of death. A large number of chemical base modifications in ribonucleic acid (RNA) are associated with cardiovascular diseases.
Jieying Chen   +6 more
doaj   +1 more source

Autologous Ex Vivo Lentiviral Gene Therapy for Adenosine Deaminase Deficiency.

open access: yesNew England Journal of Medicine, 2021
BACKGROUND Severe combined immunodeficiency due to adenosine deaminase (ADA) deficiency (ADA-SCID) is a rare and life-threatening primary immunodeficiency.
D. Kohn   +52 more
semanticscholar   +1 more source

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