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

van Well, G.; Kant, B.; van Nistelrooij, A.; Ekmekci, SEMA; Henriet, S.; Hoppenreijs, E.; van Deuren, M.; van Montfrans, J.; Nierkens, S.; Gul, AHMET; van Gijn, M.

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

van Well G. T. J., Kant B., van Nistelrooij A., Ekmekci S. S., Henriet S. S. V., Hoppenreijs E., ...Daha Fazla

CLINICAL AND EXPERIMENTAL RHEUMATOLOGY, cilt.37, sa.6, ss.142-146, 2019 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 37 Sayı: 6
Basım Tarihi: 2019
Dergi Adı: CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.142-146
Anahtar Kelimeler: 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
İstanbul Üniversitesi Adresli: Evet

Özet

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).