Heterozygous IKKβ Activation Loop Mutation Results in a Complex Immunodeficiency Syndrome.

Jordan Abbott, Angelica C Ehler, Divya Jayaraman, Paul R Reynolds, Kanao Otsu, Laurie Manka, Erwin W Gelfand

Journal of Allergy and Clinical Immunology 2020 June 16

We identified in an adult with ectodermal dysplasia and immunodeficiency a germline, gain-of-function mutation, K171R, in IKBKB. The K171R mouse immunologic phenotype parallels human, suggesting IKBKB K171R underlies a novel immunodeficiency syndrome.

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