A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2

Ozen, SEZA; Bilginer, Y; Batu, ED; Taşkıran, ZİHNİ; Özkara, HATİCE; Ünal, ŞULE; Güleray, NAZ; Erden, A; Karadağ, ÖMER; Gümrük, FATMA; Çetin, M; Sönmez, HE; Ayvaz, DENİZ; Tezcan, I

doi:10.3899/jrheum.181384

A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2

Ozen S., Bilginer Y., Batu E., Taşkıran E., Özkara H. A., Ünal Ş., ...More

JOURNAL OF RHEUMATOLOGY, vol.47, no.1, pp.117-125, 2020 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 47 Issue: 1
Publication Date: 2020
Doi Number: 10.3899/jrheum.181384
Journal Name: JOURNAL OF RHEUMATOLOGY
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, PASCAL, BIOSIS, CAB Abstracts, CINAHL, EMBASE, International Pharmaceutical Abstracts, MEDLINE
Page Numbers: pp.117-125
Keywords: ADENOSINE DEAMINASE 2 DEFICIENCY, DIAMOND-BLACKFAN ANEMIA, POLYARTERITIS NODOSA PURE RED CELL ANEMIA, CELL TRANSPLANTATION RESCUES, POLYARTERITIS-NODOSA, CLASSIFICATION, VASCULOPATHY, CRITERIA, RECEPTOR, ADA2
Hacettepe University Affiliated: Yes

Abstract

Objective. Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disorder associated with ADA2 mutations. We aimed to investigate the characteristics and ADA2 enzyme activities of patients with DADA2 compared to non-DADA2 patients.