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 …

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 wide spectrum of phenotype of deficiency of deaminase 2 (DADA2): a systematic literature review

I Maccora, V Maniscalco, S Campani, S Carrera… - Orphanet Journal of …, 2023 - Springer
Introduction Deficiency of adenosine deaminase 2 (DADA2) is a rare monogenic
autoinflammatory disease, whose clinical phenotype was expanded since the first cases …

A cohort study on deficiency of ADA2 from China

G Li, X Han, Y Wu, W Wang, H Tang, M Lu… - Journal of Clinical …, 2023 - Springer
Purpose Deficiency of adenosine deaminase 2 (DADA2), an autosomal recessive
autoinflammatory disorder caused by biallelic loss-of-function variants in adenosine …

Genotype and phenotype of adenosine deaminase 2 deficiency: a report from Saudi Arabia

F Alabbas, T Alanzi, A Alrasheed, M Essa… - Journal of Clinical …, 2023 - Springer
Abstract Adenosine deaminase 2 deficiency (DADA2), a rare and potentially fatal systemic
autoinflammatory disease, is characterized by low or lack of ADA2 activity due to ADA2 …

[PDF][PDF] Deficiencia adenozín-deaminázy 2. typu (DADA2): klinický obraz, diagnostika a liečba

B Balažiová, G Hrčková, V Dobšinská… - Vnitřní …, 2024 - casopisvnitrnilekarstvi.cz
Deficiency of adenosine deaminase type 2 (DADA2) is a genetically determined multisystem
autoinflammatory disease first described in 2014. It results from pathogenic variants in the …