Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.T129P
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ADA2

NM_001282225.2:p.T129P

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

[ADA2, an Adenosine Deaminase Isozyme Acting as a Regulator of Autoinflammation].

Ito M

Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan, 2025

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

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

Analysis of deficiency of adenosine deaminase 2 pathogenesis based on single-cell RNA sequencing of monocytes.

Watanabe N et al.

Journal of Leukocyte Biology, 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

Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2.

Lee PY et al.

The Journal of Allergy and Clinical Immunology, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."