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 …

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 …

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 …

Mechanisms of vascular inflammation in deficiency of adenosine deaminase 2 (DADA2)

PY Lee, I Aksentijevich, Q Zhou - Seminars in Immunopathology, 2022 - Springer
Deficiency of adenosine deaminase 2 (DADA2) was first described as a monogenic form of
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 …

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 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 …

Allogeneic hematopoietic cell transplantation for patients with deficiency of adenosine deaminase 2 (DADA2): approaches, obstacles and special considerations

H Hashem, D Dimitrova, I Meyts - Frontiers in Immunology, 2022 - frontiersin.org
Deficiency of adenosine deaminase 2 (DADA2) is an inherited autosomal recessive disease
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 …

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 …