NFKBIA and T-cell immunodeficiency: Regulation of NFκB activation via modification of the stability of IκBα is crucial as NFκB signals the transcription of genes involved in a variety of cellular processes including immune response, inflammation, differentiation, and apoptosis.49 In patients with anhidrotic ectodermal dysplasia with T cell immunodeficiency, a S32I mutation in IκBα protein has been found.50 This mutation disrupts the phosphorylation of the IκBα degron motif; thus the protein cannot be degraded and ultimately NFκB cannot be activated.