Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.P425A
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ADA2

NM_001282225.2:p.P425A

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

Deficiency of adenosine deaminase 2 skews adaptive immune repertoires toward specific sets of T- and B-cell receptors.

Schultheiß C et al.

The Journal of Allergy and Clinical Immunology, 2025

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

TNF inhibition in vasculitis management in adenosine deaminase 2 deficiency (DADA2).

Deuitch NT et al.

The Journal of Allergy and Clinical Immunology, 2022

The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort.

Barron KS et al.

Frontiers in Immunology, 2021

35095905 (PubMed )
Supplement: Table_2.xlsx › Sheet1
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