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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d4e96a63dc87e4eadda4f8f9cca5ef48
https://dspace.library.uu.nl/handle/1874/391635

De invloed van immuunglobuline-doseringen op longziekte bij primaire antistof deficiënties (i-PAD)

Autor: van Montfrans, JM

Publikováno v: Paraplu-Stichting voor afweerstoornissen, 2017(december), 15

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ee77dcb018b65ccfcb46f97e1bee3a1d
https://dspace.library.uu.nl/handle/1874/358404

Paediatric - An HIV-infected infant with Bacille Calmette-Guerin disease, recurrent and multidrug-resistant tuberculosis complicated by acute cor pulmonale and hepatitis while on antiretroviral therapy

Autor: van Montfrans, JM, Rabie, H, Schaaf, HS, Hesseling, AC, Cotton, MF, Shipton, SE, Victor, T

Publikováno v: Southern African Journal of HIV Medicine; Vol 8, No 1 (2007); 49-51

We describe the management of an HIV-infected infant with multisystem disease. The infant presented with severe disease at 3 months of age. Initiation of antiretroviral therapy (ART) was delayed through initial lack of access, after which she develop

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=78975075580c::2e1eb60b91dd54773892f5fa7c0a35df
https://www.ajol.info/index.php/sajhivm/article/view/34856

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