Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variant

Daniel C Koboldt, Hye Sun Kuehn, Jennifer R Yonkof, Joanne Drew, Kelsey Lecerf, Kristy Lee, Mari Mori, Richard K Wilson, Roshini S Abraham, Samuel Franklin, Scott E Hickey, Sergio D Rosenzweig, Shoghik Akoghlanian, Theresa Mihalic Mosher, Vidya Sivaraman, Vijayakumar Jayaraman