Varaico: Literature-Extracted Genetic Variants

Gene:ADA
Variant:p.A357T
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ADA

NM_000022.4:p.A357T

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

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

Clinical Symptoms, Laboratory Parameters and Long-Term Follow-up in a National DADA2 Cohort.

Andriessen MVE et al.

Journal of Clinical Immunology, 2023

A Cohort Study on Deficiency of ADA2 from China.

Li GM et al.

Journal of Clinical Immunology, 2023

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

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

Sahin S et al.

Current Opinion in Rheumatology, 2020

Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.

Fujikura K

Plos One, 2016

27219052 (PubMed )
Supplement: pone.0155552.s003.pdf
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