Encyclopedia of Medical Immunology

Living Edition
| Editors: Ian MacKay, Noel R. Rose

Autosomal Dominant Anhidrotic Ectodermal Dysplasia with Immunodeficiency (AD-EDA-ID)

  • Adeeb A. BulkhiEmail author
Living reference work entry
First Online:
DOI: https://doi.org/10.1007/978-1-4614-9209-2_177-1
How to cite

Synonyms

EDA-ID; HED-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; IkB-alpha gain of function

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

  1. 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
  2. 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
  3. Kawai T, Nishikomori R, Heike T. Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency. Allergol Int. 2012;61(2):207–17.CrossRefGoogle Scholar
  4. 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
  5. 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

Authors and Affiliations

  1. 1.Department of Internal MedicineCollege of Medicine, Umm Al Qura UniversityMakkahSaudi Arabia
  2. 2.Division of Allergy and Immunology, Department of Internal MedicineMorsani College of Medicine, University of South FloridaTampaUSA

Section editors and affiliations

  • Jolan Walter
    • 1
  1. 1.USF HealthTampaUSA