Associated Papers
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
Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort.
Kong SW et al.
Npj Genomic Medicine, 2025
Long-term and real-world safety and efficacy of retroviral gene therapy for adenosine deaminase deficiency.
Migliavacca M et al.
Nature Medicine, 2024
Hepatocellular Carcinoma in ADA-SCID Patient After Hematopoietic Stem Cell Transplantation.
Ucku D et al.
Journal of Pediatric Hematology/oncology, 2023
Adenosine Deaminase (ADA) Deficiency: Report of Six New Cases and Reappraisal of Cutaneous Hypermelanosis as an Early Feature.
Sharafian S et al.
Journal of Clinical Immunology, 2022
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
Primary immunodeficiencies in Bulgaria - achievements and challenges of the PID National Expert Center.
Naumova E et al.
Frontiers in Immunology, 2022
National experience with adenosine deaminase deficiency related SCID in Polish children.
Dąbrowska-Leonik N et al.
Frontiers in Immunology, 2022
Severe Combined Immunodeficiency (SCID)-the Irish Experience.
Burns H et al.
Journal of Clinical Immunology, 2021
The Use of Induced Pluripotent Stem Cells to Study the Effects of Adenosine Deaminase Deficiency on Human Neutrophil Development.
Tsui M et al.
Frontiers in Immunology, 2021
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.
Byrjalsen A et al.
Plos Genetics, 2020
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
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
Partial Purine Nucleoside Phosphorylase Deficiency Helps Determine Minimal Activity Required for Immune and Neurological Development.
Grunebaum E et al.
Frontiers in Immunology, 2020
A Decade Experience on Severe Combined Immunodeficiency Phenotype in Oman, Bridging to Newborn Screening.
Al Sukaiti N et al.
Frontiers in 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
Neutropenia among patients with adenosine deaminase deficiency.
Kim VH et al.
The Journal of Allergy and Clinical 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
Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency.
Luk ADW et al.
Frontiers in Immunology, 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
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing.
Bhattacharjee A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency.
Grunebaum E et al.
The Journal of Allergy and Clinical Immunology, 2012
Defective B cell tolerance in adenosine deaminase deficiency is corrected by gene therapy.
Sauer AV et al.
The Journal of Clinical Investigation, 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
Hematopoietic stem cell gene therapy for adenosine deaminase-deficient severe combined immunodeficiency leads to long-term immunological recovery and metabolic correction.
Gaspar HB et al.
Science Translational Medicine, 2011
Gene therapy for immunodeficiency due to adenosine deaminase deficiency.
Aiuti A et al.
The New England Journal of Medicine, 2009
Clinical application of DNA microarrays: molecular diagnosis and HLA matching of an Amish child with severe combined immune deficiency.
Strauss KA et al.
Clinical Immunology (orlando, Fla.), 2008
Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications.
Hönig M et al.
Blood, 2007
Genotype is an important determinant of phenotype in adenosine deaminase deficiency.
Hershfield MS
Current Opinion in Immunology, 2003
Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del. Mutations in brief no. 142. Online.
Arrendondo-Vega FX et al.
Human Mutation, 1998
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
Unusual retinopathy in a child with severe combined immune deficiency.
Gerth-Kahlert C et al.
Ophthalmic Genetics, 0