Associated Papers
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
Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID): Molecular Pathogenesis and Clinical Manifestations.
Bradford KL et al.
Journal of Clinical Immunology, 2017
Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden.
Abouelhoda M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
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
Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications.
Hönig M et al.
Blood, 2007
polyethylene glycol-conjugated adenosine deaminase (ADA) therapy provides temporary immune reconstitution to a child with delayed-onset ADA deficiency.
Lainka E et al.
Clinical and Diagnostic Laboratory Immunology, 2005
Genotype is an important determinant of phenotype in adenosine deaminase deficiency.
Hershfield MS
Current Opinion in Immunology, 2003
Adenosine deaminase: functional implications and different classes of inhibitors.
Cristalli G et al.
Medicinal Research Reviews, 2001
Molecular basis for paradoxical carriers of adenosine deaminase (ADA) deficiency that show extremely low levels of ADA activity in peripheral blood cells without immunodeficiency.
Ariga T et al.
Journal of Immunology (baltimore, Md. : 1950), 2001
Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.
Arredondo-Vega FX et al.
American Journal of Human Genetics, 1998
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