Varaico: Literature-Extracted Genetic Variants

Gene:ADA
Variant:p.R282Q
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ADA

NM_000022.4:p.R282Q

Associated Papers

Clinical and genetic spectrum of inborn errors of immunity: a retrospective study on outcomes at a single center.

Kose H et al.

Frontiers in Immunology, 2026

Treatment with Elapegademase Restores Immunity in Infants with Adenosine Deaminase Deficient Severe Combined Immunodeficiency.

Hicks ED et al.

Journal of Clinical Immunology, 2024

Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Chan SH et al.

Nature Communications, 2022

36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2

Adenosine Deaminase (ADA) Deficiency: Report of Six New Cases and Reappraisal of Cutaneous Hypermelanosis as an Early Feature.

Sharafian S et al.

Journal of Clinical Immunology, 2022

Urogenital Abnormalities in Adenosine Deaminase Deficiency.

Pajno R et al.

Journal of Clinical Immunology, 2020

Computational Analysis of nsSNPs of ADA Gene in Severe Combined Immunodeficiency Using Molecular Modeling and Dynamics Simulation.

Essadssi S et al.

Journal of Immunology Research, 2019

31781678 (PubMed )
Supplement: 5902391.f1.pdf

Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency.

Cicalese MP et al.

Blood, 2016

Defective B cell tolerance in adenosine deaminase deficiency is corrected by gene therapy.

Sauer AV et al.

The Journal of Clinical Investigation, 2012

A novel mutation in the ADA gene causing severe combined immunodeficiency in an Arab patient: a case report.

Hellani A et al.

Journal of Medical Case Reports, 2009

Gene therapy for immunodeficiency due to adenosine deaminase deficiency.

Aiuti A et al.

The New England Journal of Medicine, 2009

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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."