Adenosine deaminase deficiency
Impulse oscillometry identifies peripheral airway dysfunction in children with adenosine deaminase deficiency
... Adenosine deaminase deficiency causes bronchial inflammation, pulmonary fibrosis and alveolar enlarge- ments in Ada knockout mice [6–8]. Similarly, non- infectious lung abnormalities are emerging as ...
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Overproduction of adenine deoxynucleosides and deoxynucletides in adenosine deaminase deficiency with severe combined immunodeficiency disease
... The deoxynucleotide, dATP, is elevated 50- to 1,000-fold above normal in erythrocytes, lymphocytes, and bone marrow from a child with adenosine deaminase deficiency and severe combined ...
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Development of gene therapy: potential in severe combined immunodeficiency due to adenosine deaminase deficiency
... Abstract: The history of stem cell gene therapy is strongly linked to the development of gene therapy for severe combined immunodeficiencies (SCID) and especially adenosine deaminase (ADA)-deficient SCID. ...
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Adenosine deaminase messenger RNAs in lymphoblast cell lines derived from leukemic patients and patients with hereditary adenosine deaminase deficiency
... lymphopenia with severe combined immunodeficiency disease. Cells from patients with ADA deficiency contain less than normal, and sometimes undetectable, amounts of ADA catalytic activity and ADA protein. The ...
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Adenosine deaminase deficiency increases thymic apoptosis and causes defective T cell receptor signaling
... 1972, adenosine deaminase (ADA) deficiency became the first of the immunodeficiency diseases for which a specific molecular defect was identified ...a deficiency in another purine catabolic ...
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Adenosine deaminase deficiency: disappearance of adenine deoxynucleotides from a patient's erythrocytes after successful marrow transplantation
... patient with adenosine deaminase (ADA) deficiency was confirmed. The patient, now 18 mo old, was treated with a bone marrow transplantation from his HLA identical sister at 7 mo of age. Before and ...
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Adenosine deaminase deficiency with normal immune function An acidic enzyme mutation
... lymphocyte adenosine deaminase activity and normal immune ...(a) adenosine deaminase activity and immunoreactive protein are undetectable in erythrocytes, ...plasma adenosine and ...
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Erythrocyte Adenosine Deaminase Deficiency without Immunodeficiency: EVIDENCE FOR AN UNSTABLE MUTANT ENZYME
... Inherited deficiency of the purine salvage enzyme adenosine deaminase (ADA) gives rise to a syndrome of severe combined immunodeficiency (SCID). We have studied a 2.5-yr-old immunologically normal ...
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Defective B cell tolerance in adenosine deaminase deficiency is corrected by gene therapy
... the adenosine deaminase (ADA) gene are among the most common causes of SCID ...cell deficiency is related to the physiological effect of accumulating adenosine and deoxyadenosine ADA ...
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Adenosine deaminase deficiency: a review
... of adenosine deaminase and con- sequences of toxic substrate accumulation in the lungs has been demonstrated in experimental models, with ADA( − / − )mice displaying severe pulmonary inflamma- tion, with ...
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Insights into thymic purine metabolism and adenosine deaminase deficiency revealed by transgenic mice overexpressing ecto 5' nucleotidase (CD73)
... mice. Adenosine measurements in thymic extracts revealed that adenosine concentrations were only moderately elevated in the trangenic mice as compared to age-matched control lit- termates, ...of ...
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IgG antibody response to polyethylene glycol modified adenosine deaminase in patients with adenosine deaminase deficiency
... Polyethylene glycol (PEG)-modified bovine adenosine deaminase (ADA) is used for replacement therapy of severe combined immunodeficiency disease due to inherited ADA deficiency. We monitored IgG ...
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Genetic heterogeneity in partial adenosine deaminase deficiency
... Thus, GM 4396 has an enzyme with increased anodal electrophoretic mobility, decreased, more acidic isoelectric point and relatively normal heat stability, while GM 2294 has an enzyme wit[r] ...
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Purine nucleoside metabolism in the erythrocytes of patients with adenosine deaminase deficiency and severe combined immunodeficiency
... ADA deficiency in intake erythrocytes was confirmed by a very sensitive ammonia-liberation ...vitro, adenosine was incorporated principally into IMP in the heterozygous and normal individuals but into the ...
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Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency
... with adenosine deaminase (ADA) deficiency expressed ADA activity in the normal range, inconsistent with her severe immunodeficiency, metabolic abnormalities, and with the absence of ADA activity in ...
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Gene Therapy in Cardiac Arrhythmias
... Gene therapy has progressed from a dream to a bedside reality in quite a few human diseases. From its first application in adenosine deaminase deficiency, through the years, its application has ...
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Pegademase bovine (PEG-ADA) for the treatment of infants and children with severe combined immunodeficiency (SCID
... Abstract: Adenosine deaminase deficiency (ADA) is a rare, inherited disorder of purine metabolism characterized by immunodeficiency, failure to thrive and metabolic ...immune deficiency ...
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Pathways of adenine nucleotide catabolism in erythrocytes
... of adenosine, and a small recycling of this nucleoside could be ...of adenosine transport showed that the dephosphorylation of AMP occurred ...AMP deaminase but a small recycling of adenosine ...
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Peritoneal Tuberculosis: Looking beyond the Typical Pathology
... clinical response and resolution of ascites. However, further studies of this correlation are needed. Additionally, Adenosine Deaminase (ADA) an aminohydrolase that converts adenosine to inosine, has ...
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Radioimmunochemical quantitation of human adenosine deaminase
... absent adenosine deaminase activity in man is associated with an autosomal recesive form of severe conbined immunodeficiency ...active adenosine deaminase (CRM) in the hemolysate of homozygous ...
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