Identification of Novel Adenosine Deaminase 2 Gene Variants and Varied Clinical Phenotype in Pediatric Vasculitis.

Kristen M GibsonKimberly A MorishitaPaul DanceyPaul MooreheadBritt DrögemöllerXiaohua HanJinko GrahamRobert E W HancockDirk FoellSusanne BenselerRashid LuqmaniRae S M YeungSusan ShenoiMarek BohmAlan M RosenbergColin J RossDavid A CabralKelly L Brownnull null

Published in: Arthritis & rheumatology (Hoboken, N.J.) (2019)

These findings support previous observations indicating that DADA2 has extensive genotypic and phenotypic variability. Thus, screening ADA2 among children with vasculitic rash, UCV, PAN, or unexplained, early-onset central nervous system disease with systemic inflammation may enable an earlier diagnosis of DADA2.

Keyphrases

early onset
copy number
late onset
young adults
genome wide
genome wide identification
bioinformatics analysis
protein kinase
transcription factor
childhood cancer