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

ConclusionsThe 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.

Source: Molecular Genetics & Genomic Medicine - April 15, 2019 Category: Genetics & Stem Cells Authors: John H. Newman, Aaron Shaver, Jonathan H. Sheehan, Simon Mallal, John H. Stone, Shiv Pillai, Lisa Bastarache, Derek Riebau, Hugues Allard ‐Chamard, William M. Stone, Cory Perugino, Mark Pilkinton, Scott A. Smith, Wyatt J. McDonnell, John A Tags: CLINICAL REPORT Source Type: research