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

Qing Zhou,Andrey V. Zavialov,Jae Jin Chae,Michael S. Hershfield,Raman Sood,Shawn M. Burgess,D Chin,Massimo Gadina,Raphaela Goldbach-Mansky,Amanda K. Ombrello,Deborah L. Stone,Ivona Aksentijevich,Dl Kastner

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

2013

Qing Zhou
Andrey V. Zavialov
Jae Jin Chae
Michael S. Hershfield
Raman Sood
Shawn M. Burgess
D Chin
Massimo Gadina
Raphaela Goldbach-Mansky
Amanda K. Ombrello
Deborah L. Stone
Ivona Aksentijevich
Dl Kastner

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.

Keywords:

Immunodeficiency
Loss function
Livedo reticularis
Rheumatology
Lacunar stroke
Pathology
Immunology
Systemic inflammation
Disease
Adenosine deaminase
Internal medicine
Medicine
Bioinformatics

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