Expanding spectrum of DADA2: a review of phenotypes, genetics, pathogenesis and treatment
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 …
mutations in ADA2 gene (previously CECR1). The aim of this review was to describe the …
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 …
disease characterized by systemic vasculitis, early-onset stroke, bone marrow failure, and/or …
Hematopoietic cell transplantation cures adenosine deaminase 2 deficiency: report on 30 patients
Purpose Deficiency of adenosine deaminase 2 (DADA2) is an inherited inborn error of
immunity, characterized by autoinflammation (recurrent fever), vasculopathy (livedo …
immunity, characterized by autoinflammation (recurrent fever), vasculopathy (livedo …
Mechanisms of vascular inflammation in deficiency of adenosine deaminase 2 (DADA2)
Deficiency of adenosine deaminase 2 (DADA2) was first described as a monogenic form of
systemic vasculitis that closely resembles polyarteritis nodosa (PAN). The phenotypic …
systemic vasculitis that closely resembles polyarteritis nodosa (PAN). The phenotypic …
Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach
H Jee, Z Huang, S Baxter, Y Huang, ML Taylor… - Journal of Allergy and …, 2022 - Elsevier
Background Deficiency of adenosine deaminase 2 (DADA2) is an autoinflammatory disease
caused by deleterious ADA2 variants. The frequency of these variants in the general …
caused by deleterious ADA2 variants. The frequency of these variants in the general …
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 …
autoinflammatory disease, whose clinical phenotype was expanded since the first cases …
A narrative review of the neurological manifestations of human adenosine deaminase 2 deficiency
M Dzhus, L Ehlers, M Wouters, K Jansen… - Journal of Clinical …, 2023 - Springer
Deficiency of human adenosine deaminase type 2 (DADA2) is a complex systemic
autoinflammatory disorder characterized by vasculopathy, immune dysregulation, and …
autoinflammatory disorder characterized by vasculopathy, immune dysregulation, and …
Allogeneic hematopoietic cell transplantation for patients with deficiency of adenosine deaminase 2 (DADA2): approaches, obstacles and special considerations
Deficiency of adenosine deaminase 2 (DADA2) is an inherited autosomal recessive disease
characterized by autoinflammation (recurrent fever), vasculopathy (livedo racemosa …
characterized by autoinflammation (recurrent fever), vasculopathy (livedo racemosa …
DADA2 diagnosed in adulthood versus childhood: a comparative study on 306 patients including a systematic literature review and 12 French cases
A Fayand, F Chasset, D Boutboul, V Queyrel… - Seminars in Arthritis and …, 2021 - Elsevier
Background Deficiency of adenosine deaminase 2 (DADA2) is a rare autoinflammatory
disease usually presenting before the age of 10 years. Non-specific clinical features or late …
disease usually presenting before the age of 10 years. Non-specific clinical features or late …
Systematic review of childhood-onset polyarteritis nodosa and DADA2
MK Cuceoglu, S Sener, ED Batu, UK Akca… - Seminars in Arthritis and …, 2021 - Elsevier
Background Diagnosis of childhood polyarteritis nodosa (PAN) has become challenging
after the definition of deficiency of adenosine deaminase 2 (DADA2). We aimed to define the …
after the definition of deficiency of adenosine deaminase 2 (DADA2). We aimed to define the …