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
Pathogenic variant c.1052T>A (p.Leu351Gln) in adenosine deaminase 2 impairs secretion and elevates type I IFN responsive gene expression.
Bowers SM et al.
Frontiers in Immunology, 2022
Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2).
Lee PY et al.
The Journal of Allergy and Clinical Immunology, 2020
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