Phenotypic variability including Behçet's disease-like manifestations in DADA2 patients due to a homozygous c.973-2A>G splice site mutation

Autor: van Well, G.T.J., Kant, Benjamin, Nisterlrooij, A, Ekmekci, S, Henriet, Stefanie, Hoppenreijs, E.P.A.H., van Deuren, M., van Montfrans, JM, Nierkens, Stefan, Gul, A, van Gijn, Marielle

Publikováno v: Publons
Clinical and Experimental Rheumatology, 37(121/6), 142-146. Clinical and Experimental Rheumatology
Clinical and Experimental Rheumatology, 37(6), 142-146. CLINICAL & EXPER RHEUMATOLOGY
Clinical and Experimental Rheumatology, 37(suppl 121), 142. Clinical and Experimental Rheumatology S.A.S.

Objective. To describe phenotypic and functional characteristics of patients with the homozygous c.973-2A>G splice site mutation in the adenosine deaminase 2 (ADA2) gene (rs139750129), resulting in deficiency of ADA2 (DADA2). Methods. We present case

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https://dspace.library.uu.nl/handle/1874/391635