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- W4386074579 abstract "Abstract Background The deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessively inherited disease resulting from loss‐of‐function mutations in ADA2, formerly named CECR1 (cat eye syndrome chromosome region, candidate 1) gene. Disease manifestations could be separated into three major phenotypes: inflammatory/vascular, immune dysregulatory, and hematologic; however, most patients presented with significant overlap between these three phenotype groups. Case Presentation We present a case of DADA2 deficiency with disease onset at 3 years old, not recognized till the age of 18 with severe gastrointestinal vasculitis and recurrent episodes of neutropenia associated with a new CECR1 mutation." @default.
- W4386074579 created "2023-08-23" @default.
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- W4386074579 date "2023-08-01" @default.
- W4386074579 modified "2023-10-17" @default.
- W4386074579 title "A new CECR1 mutation associated with severe hematological involvement in ADA2 deficiency" @default.
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- W4386074579 doi "https://doi.org/10.1002/iid3.930" @default.
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