Associated Papers
Long-term and real-world safety and efficacy of retroviral gene therapy for adenosine deaminase deficiency.
Migliavacca M et al.
Nature Medicine, 2024
Delayed-onset adenosine deaminase deficiency with a novel synonymous mutation and a case series from China.
Zhang Y et al.
World Journal of Pediatrics : Wjp, 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
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
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
Urogenital Abnormalities in Adenosine Deaminase Deficiency.
Pajno R 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
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
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
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
Adenosine deaminase deficiency can present with features of Omenn syndrome.
Roifman CM et al.
The Journal of Allergy and Clinical Immunology, 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
An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers.
Smith PJ et al.
Human Molecular Genetics, 2006
Alternative splicing: multiple control mechanisms and involvement in human disease.
Cáceres JF et al.
Trends in Genetics : Tig, 2002
A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes.
Liu HX et al.
Nature Genetics, 2001
The binding site of human adenosine deaminase for CD26/Dipeptidyl peptidase IV: the Arg142Gln mutation impairs binding to cd26 but does not cause immune deficiency.
Richard E et al.
The Journal of Experimental Medicine, 2000
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
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