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Adenosine deaminase deficiency
Known as:
ada deficiency
An autosomal recessive deficiency of the purine salvage enzyme adenosine deaminase which results in Severe Combined Immunodeficiency Disease (SCID…
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National Institutes of Health
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Related topics
Related topics
5 relations
Combined immunodeficiency
Partial adenosine deaminase deficiency
Severe Combined Immunodeficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2012
Highly Cited
2012
Immune deficiencies , infection , and systemic immune disorders Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency
E. Grunebaum
,
E. Cutz
,
C. Roifman
2012
Corpus ID: 39301344
Abbreviations used ADA: Adenosine deaminase BAL: Bronchoalveolar lavage HSCT: Hematopoietic stem cell transplantation PAP…
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1998
1998
Adenosine Deaminase Deficiency and Purine Nucleoside Phosphorylase Deficiency in Common Variable Immunodeficiency
Amy Fleischman
,
M. Hershfield
,
+5 authors
J. Winkelstein
Clinical Diagnostic Laboratory Immunology
1998
Corpus ID: 8808463
ABSTRACT The clinical presentations of adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency are widely…
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Highly Cited
1995
Highly Cited
1995
p53 expression is required for thymocyte apoptosis induced by adenosine deaminase deficiency.
Patricia Benveniste
,
Amos Cohen
Proceedings of the National Academy of Sciences…
1995
Corpus ID: 20254766
Adenosine deaminase (ADA, EC 3.5.4.4) is a ubiquitous enzyme in the purine catabolic pathway. In contrast to the widespread…
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1994
1994
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.
F. Arredondo-Vega
,
I. Santisteban
,
S. Kelly
,
C. M. Schlossman
,
D. Umetsu
,
M. Hershfield
American Journal of Human Genetics
1994
Corpus ID: 31523444
Adenosine deaminase (ADA) deficiency usually causes severe combined immune deficiency in infancy. Milder phenotypes, with delayed…
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Review
1993
Review
1993
Development of Gene Therapy for Immunodeficiency: Adenosine Deaminase Deficiency
R. Blaese
Pediatric Research
1993
Corpus ID: 3193625
ABSTRACT: Deficiency of adenosine deaminase (ADA) results in severe combined immunodeficiency. Clinical cure has been observed in…
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1990
1990
Hot spot mutations in adenosine deaminase deficiency.
R. Hirschhorn
,
S. Tzall
,
A. Ellenbogen
Proceedings of the National Academy of Sciences…
1990
Corpus ID: 12534805
We have previously characterized mutant adenosine deaminase (ADA; adenosine aminohydrolase, EC 3.5.4.4) enzymes in seven children…
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1980
1980
Animal model for immune dysfunction associated with adenosine deaminase deficiency.
A. Tedde
,
M. Baliś
,
S. Ikehara
,
R. Pahwa
,
R. Good
,
P. Trotta
Proceedings of the National Academy of Sciences…
1980
Corpus ID: 27226095
An in vivo murine model for immunodeficiency of both B and T cells is produced by continuous intraperitoneal infusion of 2…
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Highly Cited
1978
Highly Cited
1978
Demonstration of adenosine receptor on human lymphocytes in vitro and its possible role in the adenosine deaminase-deficient form of severe combined immunodeficiency.
A. Schwartz
,
R. Stern
,
S. Polmar
Clinical Immunology and Immunopathology
1978
Corpus ID: 27434012
Highly Cited
1976
Highly Cited
1976
Combined Immunodeficiency Disease and Adenosine Deaminase Deficiency. A Molecular Defect
A. Baumgarten
The Yale Journal of Biology and Medicine
1976
Corpus ID: 44874077
mice are discussed by Alfred S. Steinberg who presents data in support of the idea that early loss of a thymic regulatory…
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1976
1976
Purine Dysfunction in Cells from Patients with Adenosine Deaminase Deficiency
P. Benke
,
D. Dittmar
Pediatric Research
1976
Corpus ID: 24579405
Extract: Conversion of adenosine to inosine is decreased in adenosine deaminase (ADA)-deficient fibroblasts at all concentrations…
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