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

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