A Heterozygous Gain-of-Function Variant in IKBKB Associated with Autoimmunity and Autoinflammation.
Keith A SaccoHye Sun KuehnTomoki KawaiNouf AlsaatiLauren SmithBlachy J Dávila SaldañaVanessa BundyDouglas B KuhnsA Kerry DobbsOttavia Maria DelmonteLuigi Daniele NotarangeloSergio D RosenzweigMichael D KellerPublished in: Journal of clinical immunology (2022)
A GOF variant in IKBKB may associate with autoinflammation and autoimmunity highlighting a novel clinical phenotype.
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