Varaico: Literature-Extracted Genetic Variants

Gene:ADA
Variant:p.A120A
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ADA

NM_000022.4:p.A120A

Associated Papers

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-1.pdf

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

Evaluation of subclinical ocular involvement in patients with deficiency of adenosine deaminase 2 (DADA2).

Kurumoğlu İncekalan T et al.

Clinical Rheumatology, 2022

A Novel LC-MS/MS-Based Method for the Diagnosis of ADA2 Deficiency from Dried Plasma Spot.

Cafaro A et al.

Molecules (basel, Switzerland), 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

Human adenosine deaminase 2 deficiency: A multi-faceted inborn error of immunity.

Moens L et al.

Immunological Reviews, 2019

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