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Published in: Pediatric Rheumatology 1/2013

Open Access 01-11-2013 | Meeting abstract

OR13-001 Loss-of-function mutations in CECR1, encoding adenosine deaminase 2 (ADA2), cause recurrent fevers and early onset strokes

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

Published in: Pediatric Rheumatology | Special Issue 1/2013

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Excerpt

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. …
Metadata
Title
OR13-001 Loss-of-function mutations in CECR1, encoding adenosine deaminase 2 (ADA2), cause recurrent fevers and early onset strokes
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
Publication date
01-11-2013
Publisher
BioMed Central
Published in
Pediatric Rheumatology / Issue Special Issue 1/2013
Electronic ISSN: 1546-0096
DOI
https://doi.org/10.1186/1546-0096-11-S1-A263

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