Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2)

Lee, Pui; Kellner, Erinn; Huang, Yuelong; Furutani, Elissa; Huang, Zhengping; Bainter, Wayne; Alosaimi, Mohammed; Stafstrom, Kelsey; Platt, Craig; Stauber, Tali; Raz, Somech; Tirosh, Irit; Weiss, Aaron; Jordan, Michael; Krupski, Christa; Eleftheriou, Despina; Brogan, Paul; Sobh, Ali; Baz, Zeina; Lefranc, Gerard; Irani, Carla; Kilic, SARA; El-Owaidy, Rasha; Lokeshwar, M.; Pimpale, Pallavi; Khubchandani, Raju; Chambers, Eugene; Chou, Janet; Geha, Raif; Nigrovic, Peter; Zhou, Qing

doi:10.1016/j.jaci.2019.12908

Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2)

Lee P. Y., Kellner E. S., Huang Y., Furutani E., Huang Z., Bainter W., ...Daha Fazla

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, cilt.145, sa.6, ss.1664-1682, 2020 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 145 Sayı: 6
Basım Tarihi: 2020
Doi Numarası: 10.1016/j.jaci.2019.12908
Dergi Adı: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, PASCAL, Agricultural & Environmental Science Database, BIOSIS, CAB Abstracts, EMBASE, Food Science & Technology Abstracts, International Pharmaceutical Abstracts, MEDLINE, Veterinary Science Database
Sayfa Sayıları: ss.1664-1682
Anahtar Kelimeler: Adenosine deaminase 2, DADA2, vasculitis, pure red cell aplasia, bone marrow failure, CELL TRANSPLANTATION RESCUES, POLYARTERITIS-NODOSA, VASCULOPATHY, TYPE-2
Bursa Uludağ Üniversitesi Adresli: Evet

Özet

Background: Deficiency of adenosine deaminase 2 (DADA2) is a syndrome with pleiotropic manifestations including vasculitis and hematologic compromise. A systematic definition of the relationship between adenosine deaminase 2 (ADA2) mutations and clinical phenotype remains unavailable.