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

G. T. J. van Well, B. Kant, A. van Nistelrooij, S. Sirma Ekmekci, S. S. V. Henriet, E. Hoppenreijs, M. van Deuren, J. van Montfrans, S. Nierkens, A. Gul, M. E. van Gijn

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)142-146
Number of pages5
JournalClinical and Experimental Rheumatology
Volume37
Issue number121/6
Publication statusPublished - 2019

Keywords

  • ADA2
  • DADA2
  • systemic inflammation
  • vasculitis
  • polyarteritis nodosa
  • early-onset stroke
  • Behcet's disease-like manifestations
  • splice site mutation
  • genotype
  • phenotype
  • ADENOSINE-DEAMINASE 2
  • POLYARTERITIS-NODOSA
  • DEFICIENCY
  • CECR1

Cite this

van Well, G. T. J., Kant, B., van Nistelrooij, A., Ekmekci, S. S., Henriet, S. S. V., Hoppenreijs, E., van Deuren, M., van Montfrans, J., Nierkens, S., Gul, A., & van Gijn, M. E. (2019). Phenotypic variability including Behcet's disease-like manifestations in DADA2 patients due to a homozygous c.973-2A > G splice site mutation. Clinical and Experimental Rheumatology, 37(121/6), 142-146. https://www.clinexprheumatol.org/abstract.asp?a=14623