1. A new CECR1 mutation associated with severe hematological involvement in ADA2 deficiency
- Author
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Delia Nicoară, Cristina Niță, Ana Stanilă, Alexandru Martiniuc, Laura Popa, Eliana Petrescu, Mihaela Bătăneant, Ruxandra Ciofu, Adriana Guriță, Radu Tabăcaru, Ruxandra Ionescu, and Laura Groșeanu
- Subjects
adenosine deaminase 2 deficiency ,mutation ,neutropenia ,Immunologic diseases. Allergy ,RC581-607 - 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.
- Published
- 2023
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