Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variant
Authors: Kelsey Lecerf; Daniel C Koboldt; Hye Sun Kuehn; Vijayakumar Jayaraman; Kristy Lee; Theresa Mihalic Mosher; Jennifer R Yonkof; Mari Mori; Scott E Hickey; Samuel Franklin; Joanne Drew; Shoghik Akoghlanian; Vidya Sivaraman; Sergio D Rosenzweig; Richard K Wilson; Roshini S Abraham
Collaborators: Department of Laboratory Medicine, NIH Clinical Center; Division of Genetic and Genomic Medicine; Nationwide Children's Hospital; The Ohio State University Wexner College of Medicine