Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO

E D Carrol; A R Gennery; T J Flood; G P Spickett; M Abinun

doi:10.1136/adc.88.4.340

Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO

Arch Dis Child. 2003 Apr;88(4):340-1. doi: 10.1136/adc.88.4.340.

Authors

E D Carrol¹, A R Gennery, T J Flood, G P Spickett, M Abinun

Affiliation

¹ Department of Paediatric Immunology, Newcastle upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, 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 kappaB (NF-kappaB) essential modulator, NEMO, or inhibitor of kappaB kinase (IKK-gamma). This protein is essential for activation of the transcription factor NF-kappaB, which plays an important role in human development, skin homoeostasis, and immunity.

Publication types

Case Reports

MeSH terms

Child, Preschool
Ectodermal Dysplasia / genetics*
Ectodermal Dysplasia / therapy
Follow-Up Studies
Humans
I-kappa B Kinase
Immunoglobulins, Intravenous / therapeutic use
Immunologic Deficiency Syndromes / genetics*
Immunologic Deficiency Syndromes / therapy
Male
Mutation*
Protein Serine-Threonine Kinases / genetics*

Substances

Immunoglobulins, Intravenous
Protein Serine-Threonine Kinases
CHUK protein, human
I-kappa B Kinase
IKBKB protein, human
IKBKE protein, human

Associated data

OMIM/300291