Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.M1T
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ADA2

NM_001282225.2:p.M1T

Associated Papers

Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers.

Wouters M et al.

The Journal of Experimental Medicine, 2025

40864493 (PubMed )
Supplement: jem_20250499_tables13.xlsx › Supplemental_Table_13

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-2.xlsx › Supplemental_Data_File_4

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

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

Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients.

Hashem H et al.

Journal of Clinical Immunology, 2021

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

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

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

Sahin S et al.

Rheumatology International, 2018

Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2.

Hashem H et al.

Blood, 2017

Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.

Omoyinmi E et al.

Plos One, 2017

Early-onset stroke and vasculopathy associated with mutations in ADA2.

Zhou Q et al.

The New England Journal of Medicine, 2014

The maize Single myb histone 1 gene, Smh1, belongs to a novel gene family and encodes a protein that binds telomere DNA repeats in vitro.

Marian CO et al.

Plant Physiology, 2003

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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."