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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… 
National Institutes of Health

Related topics

Related topics

5 relations
Combined immunodeficiencyPartial adenosine deaminase deficiencySevere Combined ImmunodeficiencySevere combined immunodeficiency due to adenosine deaminase deficiency

Papers overview

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Highly Cited
2012
Highly Cited
2012
Immune deficiencies , infection , and systemic immune disorders Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency
Abbreviations used ADA: Adenosine deaminase BAL: Bronchoalveolar lavage HSCT: Hematopoietic stem cell transplantation PAP… 
1998
1998
Adenosine Deaminase Deficiency and Purine Nucleoside Phosphorylase Deficiency in Common Variable Immunodeficiency
ABSTRACT The clinical presentations of adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency are widely… 
Highly Cited
1995
Highly Cited
1995
p53 expression is required for thymocyte apoptosis induced by adenosine deaminase deficiency.
Adenosine deaminase (ADA, EC 3.5.4.4) is a ubiquitous enzyme in the purine catabolic pathway. In contrast to the widespread… 
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.
Adenosine deaminase (ADA) deficiency usually causes severe combined immune deficiency in infancy. Milder phenotypes, with delayed… 
Review
1993
Review
1993
Development of Gene Therapy for Immunodeficiency: Adenosine Deaminase Deficiency
ABSTRACT: Deficiency of adenosine deaminase (ADA) results in severe combined immunodeficiency. Clinical cure has been observed in… 
1990
1990
Hot spot mutations in adenosine deaminase deficiency.
We have previously characterized mutant adenosine deaminase (ADA; adenosine aminohydrolase, EC 3.5.4.4) enzymes in seven children… 
1980
1980
Animal model for immune dysfunction associated with adenosine deaminase deficiency.
An in vivo murine model for immunodeficiency of both B and T cells is produced by continuous intraperitoneal infusion of 2… 
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.
Highly Cited
1976
Highly Cited
1976
Combined Immunodeficiency Disease and Adenosine Deaminase Deficiency. A Molecular Defect
mice are discussed by Alfred S. Steinberg who presents data in support of the idea that early loss of a thymic regulatory… 
1976
1976
Purine Dysfunction in Cells from Patients with Adenosine Deaminase Deficiency
Extract: Conversion of adenosine to inosine is decreased in adenosine deaminase (ADA)-deficient fibroblasts at all concentrations… 
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