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Acute paediatrics
Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO
  1. E D Carrol1,
  2. A R Gennery1,
  3. T J Flood1,
  4. G P Spickett2,
  5. M Abinun1
  1. 1Department of Paediatric Immunology, Newcastle upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, UK
  2. 2Regional Immunology Department, Newcastle upon Tyne Hospitals NHS Trust
  1. Correspondence to:
    Dr M Abinun, Department of Paediatric Immunology, Newcastle upon Tyne Hospitals NHS Trust, Newcastle upon Tyne NE4 6BE, UK;
    mario.abinun{at}ncl.ac.uk

Abstract

Anhidrotic (hypohidrotic) ectodermal dysplasia associated with immunodeficiency (EDA-ID; OMIM 300291) is a newly recognised primary immunodeficiency caused by mutations in NEMO, the gene encoding nuclear factor κB (NF-κB) essential modulator, NEMO, or inhibitor of κB kinase (IKK-γ). This protein is essential for activation of the transcription factor NF-κB, which plays an important role in human development, skin homoeostasis, and immunity.

  • anhidrotic ectodermal dysplasia
  • immunodeficiency
  • NEMO
  • NF-κB

https://doi.org/10.1136/adc.88.4.340

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