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., ...Daha Fazla

JOURNAL OF RHEUMATOLOGY, cilt.47, sa.1, ss.117-125, 2020 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 47 Sayı: 1
Basım Tarihi: 2020
Doi Numarası: 10.3899/jrheum.181384
Dergi Adı: JOURNAL OF RHEUMATOLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, PASCAL, BIOSIS, CAB Abstracts, CINAHL, EMBASE, International Pharmaceutical Abstracts, MEDLINE
Sayfa Sayıları: ss.117-125
Anahtar Kelimeler: ADENOSINE DEAMINASE 2 DEFICIENCY, DIAMOND-BLACKFAN ANEMIA, POLYARTERITIS NODOSA PURE RED CELL ANEMIA, CELL TRANSPLANTATION RESCUES, POLYARTERITIS-NODOSA, CLASSIFICATION, VASCULOPATHY, CRITERIA, RECEPTOR, ADA2
Hacettepe Üniversitesi Adresli: Evet

Özet

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.