Deficiency of adenosine deaminase 2 (DADA2) is a monogenic disease caused by biallelic mutations in ADA2 gene (previously CECR1). The aim of this review was to describe the …
PY Lee, ES Kellner, Y Huang, E Furutani… - Journal of allergy and …, 2020 - Elsevier
Background Deficiency of adenosine deaminase 2 (DADA2) is a syndrome with pleiotropic manifestations including vasculitis and hematologic compromise. A systematic definition of …
JC Ulirsch, JM Verboon, S Kazerounian… - The American Journal of …, 2018 - cell.com
Diamond-Blackfan anemia (DBA) is a rare bone marrow failure disorder that affects 7 out of 1,000,000 live births and has been associated with mutations in components of the …
The deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessively inherited disease that has undergone extensive phenotypic expansion since being first described in …
H Hashem, AR Kumar, I Müller, F Babor… - Blood, The Journal …, 2017 - ashpublications.org
Deficiency of adenosine deaminase 2 (DADA2) is caused by biallelic deleterious mutations in CECR1. DADA2 results in variable autoinflammation and vasculopathy (recurrent fevers …
Purpose Deficiency of adenosine deaminase 2 (DADA2) is an inherited inborn error of immunity, characterized by autoinflammation (recurrent fever), vasculopathy (livedo …
PY Lee, BA Davidson, RS Abraham, B Alter… - JAMA network …, 2023 - jamanetwork.com
Importance Deficiency of adenosine deaminase 2 (DADA2) is a recessively inherited disease characterized by systemic vasculitis, early-onset stroke, bone marrow failure, and/or …
JL Kendall, JM Springer - Current Rheumatology Reports, 2020 - Springer
Abstract Purpose of Review We aim to describe the pathophysiology, clinical findings, diagnosis, and treatment of deficiency of adenosine deaminase 2 (DADA2). Recent Findings …
S Özen, ED Batu, EZ Taşkıran, HA Özkara… - The Journal of …, 2020 - jrheum.org
Objective. Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disorder associated with ADA2 mutations. We aimed to investigate the …