OR13-001 Loss-of-function mutations in CECR1, encoding adenosine deaminase 2 (ADA2), cause recurrent fevers and early onset strokes
Year: 2013
Type: article
Study design: Case Report
Abstract: Here we describe a new genetic disease characterized by fevers and systemic inflammation, livedo reticularis, mild immunodeficiency, and early-onset recurrent lacunar strokes in 5 unrelated patients.
Source: Pediatric Rheumatology
Authors: Q Zhou, A Zavialov, J Chae, M Hershfield, R Sood, S Burgess, A Zavialov, D Chin, M Gadina, R Goldbach-Mansky, A Ombrello, D Stone, I Aksentijevich, D Kastner
Language: English
Subfield: Immunology
Field: Immunology and Microbiology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,090
OpenAlex ID: W2058052269