Associated Papers
Hepatic Vascular Involvement in Adenosine Deaminase 2 Deficiency (DADA2): Case Reports and Literature Review.
Sparchez M et al.
Diagnostics (basel, Switzerland), 2026
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
Expanding the phenotypic and genetic landscape of congenital neutropenia through whole-exome and genome sequencing.
Marti S et al.
Hemasphere, 2025
40510848 (PubMed )
Supplement: HEM3-9-e70150-s002.xlsx › S1
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
Carrier frequency and incidence estimation of deficiency of adenosine deaminase 2 in the Chinese population based on massive exome sequencing data.
Yan L et al.
Clinical Immunology (orlando, Fla.), 2024
Comparison of disease phenotypes and mechanistic insight on causal variants in patients with DADA2.
Chen L et al.
The Journal of Allergy and Clinical Immunology, 2023
Select a paper to view details