Proposal for a Disease Activity Score and Disease Damage Score for ADA2 Deficiency: the DADA2AI and DADA2DI

G Bucciol, AK Ombrello, EP Chambers… - Journal of Clinical …, 2024 - Springer
Autosomal recessive deficiency of adenosine deaminase 2 (DADA2) was described in 2014
as the cause of an autoinflammatory syndrome characterized by vasculitis, manifesting …

Clinical Symptoms, Laboratory Parameters and Long-Term Follow-up in a National DADA2 Cohort

MVE Andriessen, GE Legger, RGM Bredius… - Journal of clinical …, 2023 - Springer
Deficiency of adenosine deaminase-2 (DADA2) is an autosomal recessive autoinflammatory
disease with an extremely variable disease presentation. This paper provides a …

Novel ADA2 Variants in a Romanian Case Series of DADA2

AV Cochino, A Ioan, OM Farkas, M Liu… - Journal of Clinical …, 2023 - Springer
The growing spectrum of monogenic autoinflammatory diseases has challenged clinicians
over the last decade as patients with these conditions often present with unspecific over …

A case series of ten plus one deficiency of adenosine deaminase 2 (DADA2) patients in Iran

K Asna Ashari, N Aslani, N Parvaneh, R Assari… - Pediatric …, 2023 - Springer
Background Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive
autoinflammatory disease caused by mutations in the ADA2 gene. DADA2 has a broad …

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 …

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 …

Another Exciting Data—HCT Successfully Cured Patients with DADA2: A commentary on “Hematopoietic cell transplantation cures adenosine deaminase 2 deficiency …

M Yamashita, T Morio - Journal of Clinical Immunology, 2021 - Springer
The deficiency of adenosine deaminase 2 (DADA2) is an inborn error of immunity (IEI)
caused by biallelic mutations in ADA2. Clinical phenotypes of patients with DADA2 are …

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 …

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 …

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 …