NEMO Mutations in 2 Unrelated Boys With Severe Infections and Conical Teeth
CL Ku, S Dupuis-Girod, AM Dittrich, J Bustamante… - …, 2005 - publications.aap.org
X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency is a
developmental and immunologic disorder caused by mutations in nuclear factor-κB
essential modulator (NEMO), which is essential for nuclear factor-κB activation. Early in life,
affected boys present a typical appearance, with hypotrichosis or atrichosis, hypohidrosis or
anhidrosis, and hypodontia or anodontia with conical incisors. They are also susceptible to
various microorganisms, mostly pyogenic bacteria and mycobacteria. Here we report 2 …
developmental and immunologic disorder caused by mutations in nuclear factor-κB
essential modulator (NEMO), which is essential for nuclear factor-κB activation. Early in life,
affected boys present a typical appearance, with hypotrichosis or atrichosis, hypohidrosis or
anhidrosis, and hypodontia or anodontia with conical incisors. They are also susceptible to
various microorganisms, mostly pyogenic bacteria and mycobacteria. Here we report 2 …