Clinical expression, genetics and therapy of adenosine deaminase (ADA) deficiency

scientific article published on June 1, 1997

Clinical expression, genetics and therapy of adenosine deaminase (ADA) deficiency is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

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P6179Dimensions Publication ID1011667042
P356DOI10.1023/A:1005300621350
P953full work available at URLhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1023%2FA%3A1005300621350
https://onlinelibrary.wiley.com/doi/pdf/10.1023/A%3A1005300621350
P698PubMed publication ID9211190

P2093author name stringM. S. Hershfield
I. Santisteban
F. X. Arredondo-Vega
P2860cites workInduction of apoptotic program in cell-free extracts: requirement for dATP and cytochrome cQ24309066
Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in manQ24317015
Atomic structure of adenosine deaminase complexed with a transition-state analog: understanding catalysis and immunodeficiency mutationsQ27653992
Brief report: hepatic dysfunction as a complication of adenosine deaminase deficiencyQ71041318
Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiencyQ71167703
Adult onset immunodeficiency caused by inherited adenosine deaminase deficiencyQ72108825
Adult presentation of adenosine deaminase deficiencyQ72220530
Immunosuppression mediated by an inhibitor of S-adenosyl-L-homocysteine hydrolase. Prevention and treatment of collagen-induced arthritisQ72817299
Adenosine-deaminase deficiency in two patients with severely impaired cellular immunityQ93729850
The recognition of Lesch‐Nyhan syndrome as an inborn error of purine metabolismQ28242858
Adenosine–deaminase–deficient mice die perinatally and exhibit liver–cell degeneration, atelectasis and small intestinal cell deathQ28506780
Disruption of the adenosine deaminase gene causes hepatocellular impairment and perinatal lethality in miceQ28587434
Deduced amino acid sequence of Escherichia coli adenosine deaminase reveals evolutionarily conserved amino acid residues: implications for catalytic functionQ30965351
Hot spot mutations in adenosine deaminase deficiencyQ33740382
Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotypeQ33907756
Deoxyadenosine triphosphate as a potentially toxic metabolite in adenosine deaminase deficiencyQ33957895
p53 expression is required for thymocyte apoptosis induced by adenosine deaminase deficiency.Q33973822
Complete sequence and structure of the gene for human adenosine deaminaseQ34162954
T lymphocyte ontogeny in adenosine deaminase-deficient severe combined immune deficiency after treatment with polyethylene glycol-modified adenosine deaminaseQ34169950
Engraftment of gene-modified umbilical cord blood cells in neonates with adenosine deaminase deficiencyQ34454454
Mechanism of deoxyadenosine and 2-chlorodeoxyadenosine toxicity to nondividing human lymphocytesQ34529077
IgG antibody response to polyethylene glycol-modified adenosine deaminase in patients with adenosine deaminase deficiencyQ35602714
Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recoveryQ35889300
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.Q35889409
Conversion of a stem cell leukemia from a T-lymphoid to a myeloid phenotype induced by the adenosine deaminase inhibitor 2'-deoxycoformycinQ36246013
Resistance of an adenosine kinase-deficient human lymphoblastoid cell line to effects of deoxyadenosine on growth, S-adenosylhomocysteine hydrolase inactivation, and dATP accumulationQ36399151
In vivo inactivation of erythrocyte S-adenosylhomocysteine hydrolase by 2'-deoxyadenosine in adenosine deaminase-deficient patientsQ37037882
Biochemical basis for the enhanced toxicity of deoxyribonucleosides toward malignant human T cell linesQ37331315
S -Adenosylhomocysteine toxicity in normal and adenosine kinase-deficient lymphoblasts of human originQ37331491
Nucleoside-phosphorylase deficiency in a child with severely defective T-cell immunity and normal B-cell immunityQ39327898
Bcl-2 relieves deoxyadenylate stress and suppresses apoptosis in pre-B leukemia cells.Q39477925
Deoxyadenosine metabolism and cytotoxicity in cultured mouse T lymphoma cells: a model for immunodeficiency diseaseQ40158483
Adenosine deaminase deficiency: molecular basis and recent developmentsQ40411058
PEG-ADA: an alternative to haploidentical bone marrow transplantation and an adjunct to gene therapy for adenosine deaminase deficiencyQ40525169
Apparent suicide inactivation of human lymphoblast S-adenosylhomocysteine hydrolase by 2'-deoxyadenosine and adenine arabinoside. A basis for direct toxic effects of analogs of adenosineQ40695710
Enzyme replacement therapy with polyethylene glycol-adenosine deaminase in adenosine deaminase deficiency: overview and case reports of three patients, including two now receiving gene therapyQ40876241
S-adenosylhomocysteine catabolism and basis for acquired resistance during treatment of T-cell acute lymphoblastic leukemia with 2'-deoxycoformycin alone and in combination with 9-beta-D-arabinofuranosyladenineQ42252652
Treatment of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminaseQ43638744
Basis for resistance to 3-deazaaristeromycin, an inhibitor of S-adenosylhomocysteine hydrolase, in human B-lymphoblastsQ44040642
Enzyme replacement therapy for adenosine deaminase deficiency and severe combined immunodeficiencyQ44190198
PEG-ADA replacement therapy for adenosine deaminase deficiency: an update after 8.5 yearsQ45866741
Gene therapy in peripheral blood lymphocytes and bone marrow for ADA- immunodeficient patientsQ45866834
T lymphocyte-directed gene therapy for ADA- SCID: initial trial results after 4 years.Q45866838
Bone marrow gene transfer in three patients with adenosine deaminase deficiency.Q45879021
Alterations in deoxyribonucleotide metabolism in cultured cells with ribonucleotide reductase activities refractory to feedback inhibition by 2'-deoxyadenosine triphosphate.Q54547964
Role of S-adenosylhomocysteine in adenosine-mediated toxicity in cultured mouse T lymphoma cellsQ67051811
Identification and quantitation of adenine deoxynucleotides in erythrocytes of a patient with adenosine deaminase deficiency and severe combined immunodeficiencyQ67276550
Adenosine, deoxyadenosine, and deoxyguanosine induce DNA cleavage in mouse thymocytesQ68097030
In vivo inhibition of mouse liver methyltransferase enzymes following treatment with 2'-deoxycoformycin and 2'-deoxyadenosineQ68806847
Selective inhibition of T cell activation by an inhibitor of S-adenosyl-L-homocysteine hydrolaseQ70649010
P433issue2
P407language of work or nameEnglishQ1860
P304page(s)179-185
P577publication date1997-06-01
P1433published inJournal of Inherited Metabolic DiseaseQ6295359
P1476titleClinical expression, genetics and therapy of adenosine deaminase (ADA) deficiency
P478volume20

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cites work (P2860)
Q45871226Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID): Molecular Pathogenesis and Clinical Manifestations
Q34048275Adenosine deaminase-related growth factors stimulate cell proliferation in Drosophila by depleting extracellular adenosine
Q32063453Adenosine deaminase: functional implications and different classes of inhibitors
Q37950942Primary immunodeficiency diseases associated with neurologic manifestations
Q37963491The PRPP synthetase spectrum: what does it demonstrate about nucleotide syndromes?
Q41521428When to investigate for purine and pyrimidine disorders. Introduction and review of clinical and laboratory indications

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