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., ...More

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, vol.145, no.6, pp.1664-1682, 2020 (Journal Indexed in SCI)

Publication Type: Article / Article
Volume: 145 Issue: 6
Publication Date: 2020
Doi Number: 10.1016/j.jaci.2019.12908
Title of Journal : JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
Page Numbers: pp.1664-1682
Keywords: Adenosine deaminase 2, DADA2, vasculitis, pure red cell aplasia, bone marrow failure, CELL TRANSPLANTATION RESCUES, POLYARTERITIS-NODOSA, VASCULOPATHY, TYPE-2

Abstract

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.