Autosomal Dominant Anhidrotic Ectodermal Dysplasia with Immunodeficiency (AD-EDA-ID)
Living reference work entry
Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) is a group of disorders characterized by ectodermal tissue (ED)-related abnormalities including conical teeth, decrease/absent sweat glands, fine sparse hair, and increase susceptibility to severe infections. The disorder is linked to abnormalities of activation of nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κB) pathways (Fig. 1). Normally, in the canonical pathway, NF-κB activation occurs once external stimuli activate IκB kinase (IKK) complex that constitutes of a heterodimer of the catalytic IKKα and IKKβ units and a regulatory IKKγ unit also called NF-κB essential modulator (NEMO). Activated IKK complex phosphorylates NF-κB inhibitor α (IκBα) at serine 32 and 36 residues and therefore promotes its ubiquitination and degradation. Subsequently, NF-κB transcription factor dimer...
© Springer Science+Business Media, LLC, part of Springer Nature 2018