Associated Papers
Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers.
Wouters M et al.
The Journal of Experimental Medicine, 2025
40864493 (PubMed )
Supplement: jem_20250499_tables13.xlsx › Supplemental_Table_13
Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers.
Wouters M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39711711 (PubMed )
Supplement: media-2.xlsx › Supplemental_Data_File_4
Systematic Review of Cerebral Phenotypes Associated With Monogenic Cerebral Small-Vessel Disease.
Whittaker E et al.
Journal of the American Heart Association, 2022
Deficiency of Human Adenosine Deaminase Type 2 - A Diagnostic Conundrum for the Hematologist.
Pilania RK et al.
Frontiers in Immunology, 2022
DADA2 diagnosed in adulthood versus childhood: A comparative study on 306 patients including a systematic literature review and 12 French cases.
Fayand A et al.
Seminars in Arthritis and Rheumatism, 2021
Is gene panel sequencing more efficient than clinical-based gene sequencing to diagnose autoinflammatory diseases? A randomized study.
Rama M et al.
Clinical and Experimental Immunology, 2021
A monogenic autoinflammatory disease with fatal vasculitis: deficiency of adenosine deaminase 2.
Sahin S et al.
Current Opinion in Rheumatology, 2020
A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience.
Rama M et al.
European Journal of Human Genetics : Ejhg, 2018
Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment.
Meyts I et al.
Journal of Clinical Immunology, 2018
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