Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.R49fs
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ADA2

NM_001282225.2:p.R49fs

Associated Papers

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

Yue J et al.

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

A rapid antigen test to detect adenosine deaminase 2 (ADA2) in biological fluids and its application in clinical diagnostics.

Yang W et al.

Frontiers in Immunology, 2025

Early-onset neutropenia and mixed phenotype in ADA2 deficiency: diagnostic and therapeutic challenges.

Kaplan Sarıkavak S et al.

Frontiers in Immunology, 2025

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Schmidt A et al.

Nature Genetics, 2024

39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1

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

A Cohort Study on Deficiency of ADA2 from China.

Li GM et al.

Journal of Clinical Immunology, 2023

JAK inhibitors for the treatment of VEXAS syndrome.

Bindoli S et al.

Experimental Biology and Medicine (maywood, N.j.), 2023

Deficiency of Adenosine Deaminase 2 Presenting as Periodic Fever at the Mainland of Familial Mediterranean Fever.

Çakan M et al.

Journal of Clinical Immunology, 2022

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

Atypical presentation of adenosine deaminase 2 deficiency with bi-allelic ADA2 mutation.

Al-Shaikh R et al.

Clinical Case Reports, 2022

Lentiviral Mediated ADA2 Gene Transfer Corrects the Defects Associated With Deficiency of Adenosine Deaminase Type 2.

Hong Y et al.

Frontiers in Immunology, 2022

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

Pilania RK et al.

Frontiers in Immunology, 2022

Lentiviral correction of enzymatic activity restrains macrophage inflammation in adenosine deaminase 2 deficiency.

Zoccolillo M et al.

Blood Advances, 2021

Is gene panel sequencing more efficient than clinical-based gene sequencing to diagnose autoinflammatory diseases? A randomized study.

Rama M et al.

Clinical and Experimental Immunology, 2021

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

A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2.

Özen S et al.

The Journal of Rheumatology, 2020

Variable Clinical Phenotypes and Relation of Interferon Signature with Disease Activity in ADA2 Deficiency.

Insalaco A et al.

The Journal of Rheumatology, 2019

A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience.

Rama M et al.

European Journal of Human Genetics : Ejhg, 2018

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

Meyts I et al.

Journal of Clinical Immunology, 2018

2018 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.

Unknown Author

Journal of Clinical 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

Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency.

Ben-Ami T et al.

The Journal of Pediatrics, 2016

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