Expanding spectrum of DADA2: a review of phenotypes, genetics, pathogenesis and treatment
Sign Up to like & getrecommendations! Published in 2021 at "Clinical Rheumatology"
DOI: 10.1007/s10067-021-05711-w
Abstract: 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 clinical phenotypes, genetics, pathogenesis and treatment of… read more here.
Keywords: haematological manifestations; treatment; disease; phenotypes genetics ... See more keywords
Autoinflammation: Stem cell transplantation for DADA2
Sign Up to like & getrecommendations! Published in 2017 at "Nature Reviews Rheumatology"
DOI: 10.1038/nrrheum.2017.175
Abstract: Haematopoietic stem cell transplantation (HSCT) was an effective and definitive treatment in 14 patients with deficiency of adenosine deaminase 2 (DADA2), a monogenic autoinflammatory vasculopathy. All patients reported resolution of immunological and haematological phenotype, with… read more here.
Keywords: stem cell; cell transplantation; dada2;
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
Early onset is an indication of the severity of DADA2 disease.
Sign Up to like & getrecommendations! Published in 2022 at "Rheumatology"
DOI: 10.1093/rheumatology/keac233
Abstract: OBJECTIVE To find indicators of disease severity and factors of early remission in patients with the deficiency of adenosine deaminase 2 (DADA2). We enrolled 6 DADA2 patients from 6 families. METHODS Direct sequencing of ADA2… read more here.
Keywords: onset dada2; early onset; dada2 patients; severity ... 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
AB0974 A CASE OF ADENOSINE DEAMINASE 2 DEFICIENCY (DADA2) WITH AN UNCOMMON CLINICAL PRESENTATION AND RESPONSE TO IV IG
Sign Up to like & getrecommendations! Published in 2019 at "Annals of the Rheumatic Diseases"
DOI: 10.1136/annrheumdis-2019-eular.5187
Abstract: Background DADA2 is an autoinflammatory disease with autosomal recessive inheritance characterized by a heterogeneous clinical phenotype ranging from multisystemic inflammation (fever, polyarteritis nodosa, cerebral stroke, livedo reticularis etc.) to immune-dysregulation and immunodeficiency. Objectives To extend… read more here.
Keywords: none declared; response; treatment; case ... See more keywords
ADA2 Deficiency Mimicking Idiopathic Multicentric Castleman Disease
Sign Up to like & getrecommendations! Published in 2018 at "Pediatrics"
DOI: 10.1542/peds.2017-2266
Abstract: We report on the first case of DADA2 that mimics the clinicopathologic features of MCD. Multicentric Castleman disease (MCD) is a rare entity that, unlike unicentric Castleman disease, involves generalized polyclonal lymphoproliferation, systemic inflammation, and… read more here.
Keywords: lymphoproliferation; castleman disease; systemic inflammation; dada2 ... See more keywords
Adenosine Deaminase 2 Deficiency (DADA2): A Crosstalk Between Innate and Adaptive Immunity
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2022.935957
Abstract: Deficiency of Adenosine deaminase 2 (DADA2) is a monogenic autoinflammatory disorder presenting with a broad spectrum of clinical manifestations, including immunodeficiency, vasculopathy and hematologic disease. Biallelic mutations in ADA2 gene have been associated with a… read more here.
Keywords: immunity; innate adaptive; adenosine deaminase; adaptive immunity ... See more keywords