Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.V458D
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ADA2

NM_001282225.2:p.V458D

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

Diagnostic Implications and Correlates of Plasma Adenosine Deaminase 2 Activity and ADA2 Variants.

Yue J et al.

Arthritis & Rheumatology (hoboken, N.j.), 2025

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

ADA2 is a lysosomal deoxyadenosine deaminase acting on DNA involved in regulating TLR9-mediated immune sensing of DNA.

Greiner-Tollersrud OK et al.

Cell Reports, 2024

Systematic Review of Cerebral Phenotypes Associated With Monogenic Cerebral Small-Vessel Disease.

Whittaker E et al.

Journal of the American Heart Association, 2022

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

Deuitch NT et al.

The Journal of Allergy and Clinical Immunology, 2022

Deficiency of Human Adenosine Deaminase Type 2 - A Diagnostic Conundrum for the Hematologist.

Pilania RK et al.

Frontiers in Immunology, 2022

Adult-onset deficiency of adenosine deaminase 2-a case report and literature review.

Zhang B et al.

Clinical Rheumatology, 2021

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

Two cases of ADA2 deficiency presenting as childhood polyarteritis nodosa: novel ADA2 variant, atypical CNS manifestations, and literature review.

Ganhão S et al.

Clinical Rheumatology, 2020

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

ADA2 Deficiency: Case Series of Five Patients with Varying Phenotypes.

Tanatar A et al.

Journal of Clinical Immunology, 2020

A monogenic autoinflammatory disease with fatal vasculitis: deficiency of adenosine deaminase 2.

Sahin S et al.

Current Opinion in Rheumatology, 2020

Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment.

Meyts I et al.

Journal of Clinical Immunology, 2018

Deficiency of Adenosine Deaminase 2 in Adult Siblings: Many Years of a Misdiagnosed Disease With Severe Consequences.

Springer JM et al.

Frontiers in Immunology, 2018

Deficiency of Adenosine Deaminase 2 (DADA2), an Inherited Cause of Polyarteritis Nodosa and a Mimic of Other Systemic Rheumatologic Disorders.

Hashem H et al.

Current Rheumatology Reports, 2017

Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood.

Schepp J et al.

Arthritis & Rheumatology (hoboken, N.j.), 2017

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