Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations

Montfrans, J.M. van; Hartman, E.A.R.; Braun, K.P.J.; Hennekam, E.A.M.; Hak, E.A.; Nederkoorn, P.J.; ... ; Gijn, M.E. van (2016)

Article / Letter to editor

• ADA2
• CECR1
• auto-inflammatory disease
• vasculitis
• early-onset stroke
• livedo reticularis
• genotype
• phenotype

• All authors: Montfrans, J.M. van; Hartman, E.A.R.; Braun, K.P.J.; Hennekam, E.A.M.; Hak, E.A.; Nederkoorn, P.J.; Westendorp, W.F.; Bredius, R.G.M.; Kollen, W.J.W.; Scholvinck, E.H.; Legger, G.E.; Meyts, I.; Liston, A.; Lichtenbelt, K.D.; Giltay, J.C.; Haaften, G. van; Simons, G.M.D.; Leavis, H.; Sanders, C.J.G.; Bierings, M.B.; Nierkens, S.; Gijn, M.E. van
• Date: 2016-05-31
• Journal: Rheumatology
• Volume: 55
• Issue: 5
• Pages: 902 - 910
• DOI: doi:10.1093/rheumatology/kev439