Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

American journal of human genetics - 1 Oct 1998

Arredondo-Vega F X, Santisteban I, Daniels S, Toutain S, Hershfield M S

Abstract excerpt

Adenosine deaminase (ADA) deficiency causes lymphopenia and immunodeficiency due to toxic effects of its substrates. Most patients are infants with severe combined immunodeficiency disease (SCID), but others are diagnosed later in childhood (delayed onset) or as adults (late onset); healthy individuals with "partial" ADA deficiency have been identified. More than 50 ADA mutations are known; most patients are...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Alleles
Share to Child

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Gene Expression

Share to Genotype

Share to Mutation

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 9758612
DOI: 10.1086/302054
PMCID: PMC1377486

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.PMID 9758612Read ↗

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

Evolving spectrum of adenosine deaminase (ADA) deficiency: Assessing genotype pathogenicity according to expressed ADA activity of 46 variants.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 ↗

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 ↗

Adenosine deaminase deficiency in adults.Semantic proximity Read ↗

ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome.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 ↗

Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities.Semantic proximity Read ↗

Molecular basis of adenosine deaminase deficiency.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 ↗

Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants.Semantic proximity Read ↗

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.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.