Associated Papers
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Comparison of elapegademase and pegademase in ADA-deficient patients and mice.
Murguia-Favela L et al.
Clinical and Experimental Immunology, 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
Neutropenia among patients with adenosine deaminase deficiency.
Kim VH et al.
The Journal of Allergy and Clinical Immunology, 2019
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
Adenosine deaminase deficient severe combined immunodeficiency presenting as atypical haemolytic uraemic syndrome.
Nikolajeva O et al.
Journal of Clinical Immunology, 2015
Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency.
Grunebaum E et al.
The Journal of Allergy and Clinical Immunology, 2012
Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency.
Joshi AY et al.
Case Reports in Immunology, 2012
Genomic structure of grass carp Mx2 and the association of its polymorphisms with susceptibility/resistance to grass carp reovirus.
Wang L et al.
Molecular Immunology, 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
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
Genotype is an important determinant of phenotype in adenosine deaminase deficiency.
Hershfield MS
Current Opinion in Immunology, 2003
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
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
Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA.
Santisteban I et al.
Human Molecular Genetics, 1995