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Article

A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID).

European journal of pediatrics - 1 Nov 2010

Roberts Catherine M L, Angus Janet E, Leach Ian H, McDermott Elizabeth M, Walker David A, Ravenscroft Jane C

Abstract excerpt

Genetic conditions are increasingly recognised as a cause of multisystem diseases in children. We report a 6-year-old boy with hypohidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis and lymphoedema, associated with a novel mutation in the NF-κβ essential modulator (NEMO) gene. He is the longest surviving of three reported boys with these clinical features. Hypohidrotic ectodermal dysplasia, a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ectodermal Dysplasia 1, Anhidrotic

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Source

Identifiers

PMID: 20499091
DOI: 10.1007/s00431-010-1206-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID).PMID 20499091Read ↗

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