IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells.

John H NewmanAaron ShaverJonathan H SheehanSimon MallalJohn H StoneShiv PillaiLisa BastaracheDerek RiebauHugues Allard-ChamardWilliam M StoneCory PeruginoMark PilkintonScott A SmithWyatt J McDonnellJohn A CapraJens MeilerJoy CoganKelly XingVinay S MahajanHamid MattooRizwan HamidJohn A Phillipsnull null

Published in: Molecular genetics & genomic medicine (2019)

The presence of a shared deleterious variant and homozygous common variant in FGFBP2 in the proband and sons strongly implicates this cytotoxic T cell product in the pathophysiology of IgG4-RD. The high prevalence of a common FGFBP2 variant in sporadic IgG4-RD supports the likelihood of participation in disease.

Keyphrases

physical activity
genome wide
copy number
late onset
transcription factor
amyotrophic lateral sclerosis
anti inflammatory