Associated Papers
Carrier frequency and incidence estimation of deficiency of adenosine deaminase 2 in the Chinese population based on massive exome sequencing data.
Yan L et al.
Clinical Immunology (orlando, Fla.), 2024
A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China.
Jian M et al.
Clinical and Translational Medicine, 2022
Normal IgH Repertoire Diversity in an Infant with ADA Deficiency After Gene Therapy.
Baloh CH et al.
Journal of Clinical Immunology, 2021
Methods and feasibility study for exome sequencing as a universal second-tier test in newborn screening.
Ruiz-Schultz N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Urogenital Abnormalities in Adenosine Deaminase Deficiency.
Pajno R et al.
Journal of Clinical Immunology, 2020
Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India.
Vignesh P et al.
Frontiers in Immunology, 2020
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
Maternal T-cell engraftment impedes with diagnosis of a SCID-ADA patient.
Lanfranchi A et al.
Clinical Immunology (orlando, Fla.), 2018
Heterozygous Mutation in Adenosine Deaminase Gene in a Patient With Severe Lymphopenia Following Corticosteroid Treatment of Autoimmune Hemolytic Anemia.
Tripodi SI et al.
Frontiers in Pediatrics, 2018
Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities.
Adams SP et al.
Clinical Immunology (orlando, Fla.), 2015
Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience.
Baffelli R et al.
Journal of Clinical Immunology, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency.
la Marca G et al.
The Journal of Allergy and Clinical Immunology, 2013
Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans.
Candotti F et al.
Blood, 2012
First- and second-shell metal binding residues in human proteins are disproportionately associated with disease-related SNPs.
Levy R et al.
Human Mutation, 2011
Gene therapy for immunodeficiency due to adenosine deaminase deficiency.
Aiuti A et al.
The New England Journal of Medicine, 2009
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
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
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.
Hirschhorn R et al.
Journal of Immunology (baltimore, Md. : 1950), 1992
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