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Article

Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency.

The Journal of clinical investigation - 1 Aug 1990

Arredondo-Vega F X, Kurtzberg J, Chaffee S, Santisteban I, Reisner E, Povey M S, Hershfield M S

Abstract excerpt

T lymphocytes cultured from a patient (T.D.) 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 her B lymphocytes and other nucleated hematopoietic cells. ADA from T.D. T cells had normal Km, heat stability, and sensitivity to ADA inhibitors. Examination of HLA...

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Identifiers

PMID: 1974554
DOI: 10.1172/JCI114730
PMCID: PMC296746

Genes

ADA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency.PMID 1974554Read ↗

Molecular basis for paradoxical carriers of adenosine deaminase (ADA) deficiency that show extremely low levels of ADA activity in peripheral blood cells without immunodeficiency.Semantic proximity Read ↗

Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery.Semantic proximity Read ↗

Adenosine deaminase deficiency in adults.Semantic proximity Read ↗

Molecular basis of adenosine deaminase deficiency.Semantic proximity Read ↗

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.Semantic proximity Read ↗

An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Adenosine deaminase deficiency with mosaicism for a "second-site suppressor" of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy.Semantic proximity Read ↗

[Genetic analysis of two patients with adenosine deaminase (ADA)-deficiency: detection of three novel mutations and characterization of two paradoxical carriers].Semantic proximity Read ↗

Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.Semantic proximity Read ↗

Novel deletion and a new missense mutation (Glu 217 Lys) at the catalytic site in two adenosine deaminase alleles of a patient with neonatal onset adenosine deaminase- severe combined immunodeficiency.Semantic proximity Read ↗

Genotype is an important determinant of phenotype in adenosine deaminase deficiency.Semantic proximity Read ↗

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