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