A new CECR1 mutation associated with severe hematological involvement in ADA2 deficiency

Autor:	Delia Nicoară, Cristina Niță, Ana Stanilă, Alexandru Martiniuc, Laura Popa, Eliana Petrescu, Mihaela Bătăneant, Ruxandra Ciofu, Adriana Guriță, Radu Tabăcaru, Ruxandra Ionescu, Laura Groșeanu
Jazyk:	angličtina
Rok vydání:	2023
Předmět:	adenosine deaminase 2 deficiency mutation neutropenia Immunologic diseases. Allergy RC581-607
Zdroj:	Immunity, Inflammation and Disease, Vol 11, Iss 8, Pp n/a-n/a (2023)
Druh dokumentu:	article
ISSN:	2050-4527
DOI:	10.1002/iid3.930
Popis:	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.
Databáze:	Directory of Open Access Journals
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