Autosomal Dominant Anhidrotic Ectodermal Dysplasia with Immunodeficiency (AD-EDA-ID)
Living reference work entry
First Online:
DOI: https://doi.org/10.1007/978-1-4614-9209-2_177-1
Synonyms
Introduction
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...
This is a preview of subscription content, log in to check access.
References
- Boisson B, Puel A, Picard C, Casanova JL. Human IkappaBalpha gain of function: a severe and syndromic immunodeficiency. J Clin Immunol. 2017;37(5):397–412.CrossRefGoogle Scholar
- Courtois G, Smahi A, Reichenbach J, Doffinger R, Cancrini C, Bonnet M, et al. A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. J Clin Invest. 2003;112(7):1108–15.CrossRefGoogle Scholar
- Kawai T, Nishikomori R, Heike T. Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency. Allergol Int. 2012;61(2):207–17.CrossRefGoogle Scholar
- Ohnishi H, Miyata R, Suzuki T, Nose T, Kubota K, Kato Z, et al. A rapid screening method to detect autosomal-dominant ectodermal dysplasia with immune deficiency syndrome. J Allergy Clin Immunol. 2012;129(2):578–80.CrossRefGoogle Scholar
- Petersheim D, Massaad MJ, Lee S, Scarselli A, Cancrini C, Moriya K, et al. Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency. J Allergy Clin Immunol. 2018;141(3):1060–73. e3CrossRefGoogle Scholar
Copyright information
© Springer Science+Business Media, LLC, part of Springer Nature 2018