A Heterozygous Gain-of-Function Variant in IKBKB Associated with Autoimmunity and Autoinflammation
Keith Sacco, Hye Sun Kuehn, Tomoki Kawai, Nouf Alsaati, Lauren L. Smith, Blachy J. Dávila Saldaña, Vanessa Bundy, Douglas B. Kuhns, Kerry Dobbs, Ottavia M. Delmonte, Luigi D. Notarangelo, Sergio D. Rosenzweig, Michael D. Keller
Topics & Concepts
Jurkat cellsAutoimmunityImmunologyPhenotypeMedicineGain of functionImmune systemPeripheral blood mononuclear cellBiologyT cellIn vitroGeneticsGeneImmunodeficiency and Autoimmune DisordersNF-κB Signaling PathwaysImmune Cell Function and Interaction