Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 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
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
A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity.
Shibata H et al.
Journal of Clinical Immunology, 2024
Treatment with Elapegademase Restores Immunity in Infants with Adenosine Deaminase Deficient Severe Combined Immunodeficiency.
Hicks ED et al.
Journal of Clinical Immunology, 2024
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 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
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
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
Outcomes in two Japanese adenosine deaminase-deficiency patients treated by stem cell gene therapy with no cytoreductive conditioning.
Otsu M et al.
Journal of Clinical Immunology, 2015
Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans.
Candotti F et al.
Blood, 2012
Defective B cell tolerance in adenosine deaminase deficiency is corrected by gene therapy.
Sauer AV et al.
The Journal of Clinical Investigation, 2012
Role of reduced intensity conditioning in T-cell and B-cell immune reconstitution after HLA-identical bone marrow transplantation in ADA-SCID.
Cancrini C et al.
Haematologica, 2010
Gene therapy for immunodeficiency due to adenosine deaminase deficiency.
Aiuti A et al.
The New England Journal of Medicine, 2009
Carrier frequency of a nonsense mutation in the adenosine deaminase (ADA) gene implies a high incidence of ADA-deficient severe combined immunodeficiency (SCID) in Somalia and a single, common haplotype indicates common ancestry.
Sanchez JJ et al.
Annals of Human Genetics, 2007
Reduced thymic output, increased spontaneous apoptosis and oligoclonal B cells in polyethylene glycol-adenosine deaminase-treated patients.
Malacarne F et al.
European Journal of Immunology, 2005
Genotype is an important determinant of phenotype in adenosine deaminase deficiency.
Hershfield MS
Current Opinion in Immunology, 2003
Flow cytometry analysis of adenosine deaminase (ADA) expression: a simple and reliable tool for the assessment of ADA-deficient patients before and after gene therapy.
Otsu M et al.
Human Gene Therapy, 2002
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