Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.M243R
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ADA2

NM_001282225.2:p.M243R

Associated Papers

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

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

Pilania RK et al.

Frontiers in Immunology, 2022

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

Clinical, imaging and genotypical features of three deceased and five surviving cases with ADA2 deficiency.

Sahin S et al.

Rheumatology International, 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

Monogenic polyarteritis: the lesson of ADA2 deficiency.

Caorsi R et al.

Pediatric Rheumatology Online Journal, 2016

Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency.

Schepp J et al.

Journal of Clinical Immunology, 2016

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