[HTML][HTML] Deficiency of adenosine deaminase 2 (DADA2): updates on the phenotype, genetics, pathogenesis, and treatment

I Meyts, I Aksentijevich - Journal of clinical immunology, 2018 - Springer
Abstract Deficiency of ADA2 (DADA2) is the first molecularly described monogenic vasculitis
syndrome. DADA2 is caused by biallelic hypomorphic mutations in the ADA2 gene that …

Expanding spectrum of DADA2: a review of phenotypes, genetics, pathogenesis and treatment

B Pinto, P Deo, S Sharma, A Syal, A Sharma - Clinical Rheumatology, 2021 - Springer
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 …

Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2)

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 …

[HTML][HTML] The genetic landscape of Diamond-Blackfan anemia

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 …

[HTML][HTML] The spectrum of the deficiency of adenosine deaminase 2: an observational analysis of a 60 patient cohort

KS Barron, I Aksentijevich, NT Deuitch… - Frontiers in …, 2022 - frontiersin.org
The deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessively inherited
disease that has undergone extensive phenotypic expansion since being first described in …

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

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 …

[HTML][HTML] Hematopoietic cell transplantation cures adenosine deaminase 2 deficiency: report on 30 patients

H Hashem, G Bucciol, S Ozen, S Unal… - Journal of clinical …, 2021 - Springer
Purpose Deficiency of adenosine deaminase 2 (DADA2) is an inherited inborn error of
immunity, characterized by autoinflammation (recurrent fever), vasculopathy (livedo …

Evaluation and management of deficiency of adenosine deaminase 2: an international consensus statement

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 …

[HTML][HTML] The many faces of a monogenic autoinflammatory disease: adenosine deaminase 2 deficiency

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 …

A monogenic disease with a variety of phenotypes: deficiency of adenosine deaminase 2

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 …