A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience
Sign Up to like & getrecommendations! Published in 2018 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-018-0130-6
Abstract: Deficiency of adenosine deaminase 2 (DADA2) is a recently described autoinflammatory disorder. Genetic analysis is required to confirm the diagnosis. We aimed to describe the identifying symptoms and genotypes of patients referred to our reference… read more here.
Keywords: reference centres; adenosine deaminase; decision tree; deficiency adenosine ... See more keywords
Case-Report: Deficiency of Adenosine Deaminase 2 (DADA2) as a cause of brainstem stroke in a 3-year-old girl and the importance of early fast track genetic diagnostics to influence therapy.
Sign Up to like & getrecommendations! Published in 2022 at "Neuropediatrics"
DOI: 10.1055/a-1896-5817
Abstract: Deficiency of adenosine deaminase 2 (DADA2) is a rare mendelian, autoinflammatory multi-organ disease. We report the case of a 3 8/12 year old female patient who was admitted with an acute brainstem stroke and was… read more here.
Keywords: deaminase dada2; brainstem stroke; year old; adenosine deaminase ... See more keywords
E032 Deficiency of Adenosine Deaminase 2: a rare diagnosis in a case of suspected vasculitis
Sign Up to like & getrecommendations! Published in 2023 at "Rheumatology"
DOI: 10.1093/rheumatology/kead104.281
Abstract: Deficiency of adenosine deaminase 2 (DADA2) is a rare autosomal recessive condition first described in 2014 which is characterised by vasculitis, systemic inflammation, immunodeficiency and cytopenias. The vasculitis is difficult to differentiate from polyarteritis nodosa… read more here.
Keywords: rheumatology; vasculitis; deficiency adenosine; suspected vasculitis ... See more keywords
A monogenic autoinflammatory disease with fatal vasculitis: deficiency of adenosine deaminase 2.
Sign Up to like & getrecommendations! Published in 2019 at "Current Opinion in Rheumatology"
DOI: 10.1097/bor.0000000000000669
Abstract: PURPOSE OF REVIEW To recap the expanding clinical spectrum, genotype-phenotype associations and treatment options in the light of recently published articles regarding the deficiency of adenosine deaminase 2 (DADA2). RECENT FINDINGS Whole-exome sequencing enabled novel… read more here.
Keywords: dada2; treatment; adenosine deaminase; deficiency adenosine ... See more keywords
The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2021.811473
Abstract: The deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessively inherited disease that has undergone extensive phenotypic expansion since being first described in patients with fevers, recurrent strokes, livedo racemosa, and polyarteritis nodosa in… read more here.
Keywords: anti tnf; adenosine deaminase; deficiency adenosine; cohort ... See more keywords
Case Report: Interindividual variability and possible role of heterozygous variants in a family with deficiency of adenosine deaminase 2: are all heterozygous born equals?
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2023.1156689
Abstract: Deficiency of adenosine deaminase 2 (DADA2) is a rare systemic autoinflammatory disease, typically with autosomal recessive inheritance, usually caused by biallelic loss of function mutations in the ADA2 gene. The phenotypic spectrum is broad, generally… read more here.
Keywords: adenosine deaminase; case; deficiency adenosine;