Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Multi-Year Registry Study of Elapegademase Treatment in Patients With Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) Requiring Enzyme Replacement Therapy.
Dorsey MJ et al.
Journal of Clinical Immunology, 2025
Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity.
Klippel C et al.
International Journal of Neonatal Screening, 2025
Contribution of next generation sequencing to the diagnosis of inborn errors of immunity in a pediatric cohort.
Godinez-Zamora GF et al.
Frontiers in Immunology, 2025
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
Urogenital Abnormalities in Adenosine Deaminase Deficiency.
Pajno R et al.
Journal of Clinical Immunology, 2020
Chest Radiographs for Distinguishing ADA-SCID from Other Forms of SCID.
Verhagen MV et al.
Journal of Clinical Immunology, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.
Rudilla F et al.
Frontiers in Immunology, 2019
Computational Analysis of nsSNPs of ADA Gene in Severe Combined Immunodeficiency Using Molecular Modeling and Dynamics Simulation.
Essadssi S et al.
Journal of Immunology Research, 2019
Clinical efficacy of gene-modified stem cells in adenosine deaminase-deficient immunodeficiency.
Shaw KL et al.
The Journal of Clinical Investigation, 2017
Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency.
Cicalese MP et al.
Blood, 2016
Newborn screening for severe combined immunodeficiency: an opportunity for intervention.
Buchbinder D et al.
Journal of Perinatology : Official Journal of the California Perinatal Association, 2013
Somatic mosaicism caused by monoallelic reversion of a mutation in T cells of a patient with ADA-SCID and the effects of enzyme replacement therapy on the revertant phenotype.
Moncada-Vélez M et al.
Scandinavian Journal of Immunology, 2011
Gene therapy for immunodeficiency due to adenosine deaminase deficiency.
Aiuti A et al.
The New England Journal of Medicine, 2009
Genotype is an important determinant of phenotype in adenosine deaminase deficiency.
Hershfield MS
Current Opinion in Immunology, 2003
An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity.
Jiang C et al.
Human Molecular Genetics, 1997
Two newly identified mutations (Thr233Ile and Leu152Met) in partially adenosine deaminase-deficient (ADA-) individuals that result in differing biochemical and metabolic phenotypes.
Hirschhorn R et al.
Human Genetics, 1997
Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5' splice site.
Santisteban I et al.
Human Mutation, 1995
Homozygosity for a missense mutation (G20R) associated with neonatal onset adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID).
Yang DR et al.
Clinical Immunology and Immunopathology, 1994
Severe combined immunodeficiency of reduced severity due to homozygosity for an adenosine deaminase missense mutation (Arg253Pro).
Hirschhorn R et al.
Cellular Immunology, 1993
Two new mutations at the adenosine deaminase (ADA) locus (Q254X and del nt1050-54) unusual for not being missense mutations.
Hirschhorn R et al.
Human Mutation, 1993
Identification of two new missense mutations (R156C and S291L) in two ADA- SCID patients unusual for response to therapy with partial exchange transfusions.
Hirschhorn R
Human Mutation, 1992