Varaico: Literature-Extracted Genetic Variants

Gene:ADA2
Variant:p.G48delFs
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ADA2

NM_001282225.2:p.G48delFs

Associated Papers

Autoimmune cytopenias in inborn errors of immunity: associations with monogenic mutations and immunologic parameters.

Sağun F et al.

Bmc Immunology, 2025

Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).

Wilson GN et al.

Current Issues in Molecular Biology, 2024

38534782 (PubMed )
Supplement: cimb-46-00166-s001.zip › cimb-2829607-supplementary.xlsx › S3Tab_EDS-917_DNA_variants

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

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

Pilania RK et al.

Frontiers in Immunology, 2022

DADA2 diagnosed in adulthood versus childhood: A comparative study on 306 patients including a systematic literature review and 12 French cases.

Fayand A et al.

Seminars in Arthritis and Rheumatism, 2021

Adult-onset deficiency of adenosine deaminase 2-a case report and literature review.

Zhang B et al.

Clinical Rheumatology, 2021

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

Hashem H et al.

Journal of Clinical Immunology, 2021

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

Genomic, transcriptomic, and viral integration profiles associated with recurrent/metastatic progression in high-risk human papillomavirus cervical carcinomas.

Liu JJ et al.

Cancer Medicine, 2020

33017516 (PubMed )
Supplement: CAM4-9-8243-s003.xlsx › WES_filtered_by_FIREVAT

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9

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

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

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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."