Adenosine Deaminase

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  Subject Areas on Research

  • A 24-Year Enzyme Replacement Therapy in an Adenosine-deaminase-Deficient Patient. 
  • A 9-yr evaluation of carrier erythrocyte encapsulated adenosine deaminase (ADA) therapy in a patient with adult-type ADA deficiency. 
  • A high proportion of ADA point mutations associated with a specific alanine-to-valine substitution. 
  • A homozygous 5 base-pair deletion in exon 10 of the adenosine deaminase (ADA) gene in a child with severe combined immunodeficiency and very low levels of ADA mRNA and protein. 
  • A missense mutation in exon 4 of the human adenosine deaminase gene causes severe combined immunodeficiency. 
  • A role for adenosine deaminase in human monocyte maturation. 
  • ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome. 
  • ADA deficiency treatment. 
  • ADA-SCID with 'WAZA-ARI' mutations that synergistically abolished ADA protein stability. 
  • ADA2 Deficiency Mimicking Idiopathic Multicentric Castleman Disease. 
  • ADA2 deficiency (DADA2) associated with Evans syndrome and a severe ADA2 genotype. 
  • ADA2 deficiency: Clonal lymphoproliferation in a subset of patients. 
  • ADAR-Mediated RNA Editing Predicts Progression and Prognosis of Gastric Cancer. 
  • ALPS-Like Phenotype Caused by ADA2 Deficiency Rescued by Allogeneic Hematopoietic Stem Cell Transplantation. 
  • Abnormalities in S-adenosylhomocysteine hydrolysis, ATP catabolism, and lymphoid differentiation in adenosine deaminase deficiency. 
  • Actionable diagnosis of neuroleptospirosis by next-generation sequencing. 
  • Acute spinal cord injury persistently reduces R/G RNA editing of AMPA receptors. 
  • Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID) in the US Immunodeficiency Network (USIDNet) Registry. 
  • Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements. 
  • Adenosine deaminase 2 as a biomarker of macrophage activation syndrome in systemic juvenile idiopathic arthritis. 
  • Adenosine deaminase and purine nucleoside phosphorylase deficiencies: evaluation of therapeutic interventions in eight patients. 
  • Adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency in common variable immunodeficiency. 
  • Adenosine deaminase deficiency in adults. 
  • Adenosine deaminase deficiency with late onset of recurrent infections: response to treatment with polyethylene glycol-modified adenosine deaminase. 
  • Adenosine deaminase deficiency with mosaicism for a "second-site suppressor" of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy. 
  • Adenosine deaminase deficiency: clinical expression, molecular basis, and therapy. 
  • Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles. 
  • Adenosine deaminase type 2 deficiency masquerading as GATA2 deficiency: Successful hematopoietic stem cell transplantation. 
  • Adenosine-deaminase-deficient mice die perinatally and exhibit liver-cell degeneration, atelectasis and small intestinal cell death. 
  • Advances in the understanding and treatment of human severe combined immunodeficiency. 
  • Altered intracellular and extracellular signaling leads to impaired T-cell functions in ADA-SCID patients. 
  • Altered regulation of S-adenosylmethionine dependent methylation in adenosine deaminase deficiency. 
  • Amendment to Clinical Research Project. Project 90-C-195. April 1, 1993. Treatment of severe combined immunodeficiency disease (SCID) due to adenosine deaminase deficiency with autologous lymphocytes transduced with a human ADA gene. 
  • Anti-tumor necrosis factor-alpha therapy augments dipeptidyl peptidase IV activity and decreases autoantibodies to GRP78/BIP and phosphoglucose isomerase in patients with rheumatoid arthritis. 
  • Antibody responses to bacteriophage phi X174 in patients with adenosine deaminase deficiency. 
  • Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation. 
  • Autologous Ex Vivo Lentiviral Gene Therapy for Adenosine Deaminase Deficiency. 
  • B-cell reconstitution for SCID: should a conditioning regimen be used in SCID treatment? 
  • Brief report: hepatic dysfunction as a complication of adenosine deaminase deficiency. 
  • Case Report: Consistent disease manifestations with a staggered time course in two identical twins affected by adenosine deaminase 2 deficiency. 
  • Case Report: Deficiency of Adenosine Deaminase 2 (DADA2) as a Cause of Brainstem Stroke in a 3-Year-Old Girl and the Importance of Early Fast-Track Genetic Diagnostics to Influence Therapy. 
  • Cell surface adenosine deaminase binds and stimulates plasminogen activation on 1-LN human prostate cancer cells. 
  • Cerebral lymphoma in an adenosine deaminase-deficient patient with severe combined immunodeficiency receiving polyethylene glycol-conjugated adenosine deaminase. 
  • Characterization of a spectrophotometric assay for cAMP phosphodiesterase. 
  • Childhood Hodgkin Lymphoma: Think DADA2. 
  • Clinical efficacy of gene-modified stem cells in adenosine deaminase-deficient immunodeficiency. 
  • Clinical expression, genetics and therapy of adenosine deaminase (ADA) deficiency. 
  • Clustered charged amino acids of human adenosine deaminase comprise a functional epitope for binding the adenosine deaminase complexing protein CD26/dipeptidyl peptidase IV. 
  • Common Variable Immunodeficiency in a Carrier of the ADA2 R169Q Variant: Coincidence or Causality? 
  • Comparison of red cell transfusion and polyethylene glycol-modified adenosine deaminase therapy in an adenosine deaminase-deficient child: measurement of erythrocyte deoxyadenosine triphosphate as a useful tool. 
  • Complexities of genetic diagnosis illustrated by an atypical case of congenital hypoplastic anemia. 
  • Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach. 
  • Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency. 
  • Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency. 
  • Deficiency of Adenosine Deaminase 2 (DADA2), an Inherited Cause of Polyarteritis Nodosa and a Mimic of Other Systemic Rheumatologic Disorders. 
  • Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance. 
  • Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency. 
  • Deficiency of Adenosine Deaminase 2 in Adults and Children: Experience From India. 
  • Deficiency of adenosine deaminase 2: a case series revealing clinical manifestations, genotypes and treatment outcomes from Turkey. 
  • Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis. 
  • Delayed-onset adenosine deaminase deficiency: strategies for an early diagnosis. 
  • Dermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa. 
  • Development of gene therapy for immunodeficiency: adenosine deaminase deficiency. 
  • Development of immunity in human severe primary T cell deficiency following haploidentical bone marrow stem cell transplantation. 
  • Diagnosis of deficiency of adenosine deaminase type 2 in adulthood. 
  • Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience. 
  • Dipeptidyl peptidase IV (DPP IV/CD26) is a cell-surface plasminogen receptor. 
  • Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2. 
  • Donor type natural killer cells after haploidentical T cell-depleted bone marrow stem cell transplantation in a patient with adenosine deaminase-deficient severe combined immunodeficiency. 
  • E. coli expression system for identifying folding mutations of human adenosine deaminase. 
  • Early-onset stroke and vasculopathy associated with mutations in ADA2. 
  • Effect of polyethylene glycol-modified adenosine deaminase (PEG-ADA) therapy in two ADA-deficient children: measurement of erythrocyte deoxyadenosine triphosphate as a useful tool. 
  • Effects of deoxynucleosides on cultured human leukemia cell growth and deoxynucleotide pools. 
  • Effects of enzyme replacement therapy on immune function in ADA deficiency patient. 
  • Elevated IgE and atopy in patients treated for early-onset ADA-SCID. 
  • Engraftment of gene-modified umbilical cord blood cells in neonates with adenosine deaminase deficiency. 
  • Enzyme replacement therapy of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase (PEG-ADA). 
  • Enzyme replacement therapy with polyethylene glycol-adenosine deaminase in adenosine deaminase deficiency: overview and case reports of three patients, including two now receiving gene therapy. 
  • Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency. 
  • Failure to thrive, diarrhea, cough, and oral candidiasis in a three-month-old boy. 
  • Flow cytometry analysis of adenosine deaminase (ADA) expression: a simple and reliable tool for the assessment of ADA-deficient patients before and after gene therapy. 
  • Food allergy in a patient with adenosine deaminase deficiency undergoing enzyme replacement with polyethylene glycol-modified adenosine deaminase. 
  • Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5' splice site. 
  • Full genetic rescue of adenosine deaminase-deficient mice through introduction of the human gene. 
  • Full hematopoietic engraftment after allogeneic bone marrow transplantation without cytoreduction in a child with severe combined immunodeficiency. 
  • Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans. 
  • Gene therapy for immunodeficiency due to adenosine deaminase deficiency. 
  • Generation of normal lymphocyte populations following transplantation of adenosine-deaminase-deficient fetal liver cells. 
  • Genotype is an important determinant of phenotype in adenosine deaminase deficiency. 
  • Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients. 
  • Hematopoietic Stem Cell Transplantation in ADA2 Deficiency: Early Restoration of ADA2 Enzyme Activity and Disease Relapse upon Drop of Donor Chimerism. 
  • Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2. 
  • Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency. 
  • Heterogeneity of lymphocyte subpopulations in severe combined immunodeficiency. Evidence against a stem cell defect. 
  • Heterogeneity of phenotype in two siblings with adenosine deaminase deficiency. 
  • Homozygous Splice ADA2 Gene Mutation Causing ADA-2 Deficiency. 
  • How I treat ADA deficiency. 
  • Human adenosine deaminase 2 deficiency: A multi-faceted inborn error of immunity. 
  • Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. 
  • Identification of a deletion in the adenosine deaminase gene in a child with severe combined immunodeficiency. 
  • IgG antibody response to polyethylene glycol-modified adenosine deaminase in patients with adenosine deaminase deficiency. 
  • Immunodeficiency. 
  • Immunologic reconstitution during PEG-ADA therapy in an unusual mosaic ADA deficient patient. 
  • Improved gene expression upon transfer of the adenosine deaminase minigene outside the transcriptional unit of a retroviral vector. 
  • Impulse oscillometry identifies peripheral airway dysfunction in children with adenosine deaminase deficiency. 
  • In vivo RNA editing of point mutations via RNA-guided adenosine deaminases. 
  • In vivo inactivation of erythrocyte S-adenosylhomocysteine hydrolase by 2'-deoxyadenosine in adenosine deaminase-deficient patients. 
  • Incorporation of CC steps into Z-DNA: interplay between B-Z junction and Z-DNA helical formation. 
  • Inhibition of fetal thymic caspases abrogates the consequences of adenosine deaminase deficiency. 
  • Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency. 
  • Late-onset adenosine deaminase deficiency presenting with Heck's disease. 
  • Long-term efficacy of enzyme replacement therapy for adenosine deaminase (ADA)-deficient severe combined immunodeficiency (SCID). 
  • Long-term outcomes after gene therapy for adenosine deaminase severe combined immune deficiency. 
  • Management options for adenosine deaminase deficiency; proceedings of the EBMT satellite workshop (Hamburg, March 2006). 
  • Metabolites from apoptotic thymocytes inhibit thymopoiesis in adenosine deaminase-deficient fetal thymic organ cultures. 
  • Molecular basis for paradoxical carriers of adenosine deaminase (ADA) deficiency that show extremely low levels of ADA activity in peripheral blood cells without immunodeficiency. 
  • Molecular basis of adenosine deaminase deficiency. 
  • Morbidity in an adenosine deaminase-deficient patient during 27 years of enzyme replacement therapy. 
  • Myeloid dysplasia and bone marrow hypocellularity in adenosine deaminase-deficient severe combined immune deficiency. 
  • New insights into adenosine-receptor-mediated immunosuppression and the role of adenosine in causing the immunodeficiency associated with adenosine deaminase deficiency. 
  • Normal IgH Repertoire Diversity in an Infant with ADA Deficiency After Gene Therapy. 
  • Novel compound heterozygous variants in CECR1 gene associated with childhood onset polyarteritis nodosa and deficiency of ADA2. 
  • Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype. 
  • Outcomes following treatment for ADA-deficient severe combined immunodeficiency: a report from the PIDTC. 
  • Outcomes in two Japanese adenosine deaminase-deficiency patients treated by stem cell gene therapy with no cytoreductive conditioning. 
  • PEG-ADA replacement therapy for adenosine deaminase deficiency: an update after 8.5 years. 
  • PEG-ADA: an alternative to haploidentical bone marrow transplantation and an adjunct to gene therapy for adenosine deaminase deficiency. 
  • Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency. 
  • Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications. 
  • Prolonged pancytopenia in a gene therapy patient with ADA-deficient SCID and trisomy 8 mosaicism: a case report. 
  • RNA modification of an RNA modifier prevents self-RNA sensing. 
  • Recurrent infection, chronic diarrhea, and failure to thrive in a seven-month-old infant. 
  • Reduced thymic output, increased spontaneous apoptosis and oligoclonal B cells in polyethylene glycol-adenosine deaminase-treated patients. 
  • Renal Amyloidosis in Deficiency of Adenosine Deaminase 2: Successful Experience With Canakinumab. 
  • Response to: 'Total adenosine deaminase highly correlated with adenosine deaminase 2 activity in serum' by Gao et al. 
  • S-Adenosylhomocysteine metabolism in adenosine deaminase deficient cells. 
  • S-adenosylhomocysteine hydrolase is an adenosine-binding protein: a target for adenosine toxicity. 
  • Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood. 
  • Sequence-Based Screening of Patients With Idiopathic Polyarteritis Nodosa, Granulomatosis With Polyangiitis, and Microscopic Polyangiitis for Deleterious Genetic Variants in ADA2. 
  • Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del. Mutations in brief no. 142. Online. 
  • Severe combined immunodeficiency with leukopenia (reticular dysgenesis) in siblings: immunologic and histopathologic findings. 
  • Somatic mosaicism caused by monoallelic reversion of a mutation in T cells of a patient with ADA-SCID and the effects of enzyme replacement therapy on the revertant phenotype. 
  • Successful bone marrow transplantation with reduced intensity conditioning in a patient with delayed-onset adenosine deaminase deficiency. 
  • Successful reduced intensity hematopoietic cell transplant in a patient with deficiency of adenosine deaminase 2. 
  • Suppression of an antibody to adenosine-deaminase (ADA) in an ADA-deficient patient receiving polyethylene glycol modified adenosine deaminase. 
  • T lymphocyte ontogeny in adenosine deaminase-deficient severe combined immune deficiency after treatment with polyethylene glycol-modified adenosine deaminase. 
  • T lymphocytes with a normal ADA gene accumulate after transplantation of transduced autologous umbilical cord blood CD34+ cells in ADA-deficient SCID neonates. 
  • T-cell lines from 2 patients with adenosine deaminase (ADA) deficiency showed the restoration of ADA activity resulted from the reversion of an inherited mutation. 
  • Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency. 
  • The binding site of human adenosine deaminase for CD26/Dipeptidyl peptidase IV: the Arg142Gln mutation impairs binding to cd26 but does not cause immune deficiency. 
  • The human genes for S-adenosylhomocysteine hydrolase and adenosine deaminase are syntenic on chromosome 20. 
  • The mouse lethal nonagouti (a(x)) mutation deletes the S-adenosylhomocysteine hydrolase (Ahcy) gene. 
  • The multiple causes of human SCID. 
  • The use of enzyme therapy to regulate the metabolic and phenotypic consequences of adenosine deaminase deficiency in mice. Differential impact on pulmonary and immunologic abnormalities. 
  • Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA. 
  • Treatment Strategies for Deficiency of Adenosine Deaminase 2. 
  • Treatment of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase. 
  • Treatment of cutaneous T cell lymphoma with 2'-deoxycoformycin (pentostatin). 
  • Two biochemical markers in lymphocyte subpopulations. 
  • Uncontrolled Epstein-Barr Virus as an Atypical Presentation of Deficiency in ADA2 (DADA2). 
  • Unreported Missense Mutation in the Dimerization Domain of ADA2 Leads to ADA2 Deficiency Associated with Severe Oral Ulcers and Neutropenia in a Female Somalian Patient-Addendum to the Genotype-Phenotype Puzzle. 
  • Warts and DADA2: a Mere Coincidence? 
  • [Polyethylene glycol-adenosine deaminase: a new adenosine deaminase deficiency therapy. Value of deoxyadenosine triphosphate determination for therapeutic monitoring]. 
  • [Treatment of adenosine deaminase deficiency with adenosine deaminase combined with polyethylene glycol]. 
  • polyethylene glycol-conjugated adenosine deaminase (ADA) therapy provides temporary immune reconstitution to a child with delayed-onset ADA deficiency. 
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  Keywords of People

  • Buckley, Rebecca Hatcher, James Buren Sidbury Distinguished Professor Emeritus of Pediatrics, in the School of Medicine, Pediatrics, Allergy and Immunology