IKBKG and ectodermal dysplasia syndrome: Disease-causing variants in IKBKG have been associated with three clinical phenotypes: ectodermal dysplasia and immunodeficiency 1 [MIM:300291], immunodeficiency 33 [MIM:300636], and incontinentia pigmenti [MIM:308300], and depending on the functional impact of the sequence alteration, a wide phenotypic spectrum is possible.