ITPR3 and immune system disorder: The ectodermal phenotype of IP3R3 R2524C patients partially overlaps the phenotype of anhidrotic ectodermal dysplasia with immunodeficiency and incontinentia pigmenti due to IKBKG/NEMO variants, where patients display hypotrichosis, skin defects (hypo/anhidrosis and periocular hyperpigmentation), nail dysplasia, and tooth abnormalities, such as hypodontia and conical teeth (29).