title: A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID).
abstract: 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 congenital disorder of teeth, hair and eccrine sweat glands is most commonly inherited as an X-linked recessive trait. Associated immunodeficiency (HED-ID) may give rise to serious infections in early life. Mutations in the NEMO gene give rise to a heterogeneous group of disorders, including the X-linked dominant disorder incontinentia pigmenti. This is characterised by typical skin changes leading to linear pigmentary change and variable associated features; in males, prenatal death usually occurs. Our patient, like one if the previous cases and all of their mothers, demonstrates features of incontinentia pigmenti.
authors.affiliation: Department of Dermatology, Nottingham University Hospitals, Nottingham, UK. catherine.roberts@nuh.nhs.uk
authors.forename: Catherine M L
authors.initials: CM
authors.lastname: Roberts
authors.forename: Janet E
authors.initials: JE
authors.lastname: Angus
authors.forename: Ian H
authors.initials: IH
authors.lastname: Leach
authors.forename: Elizabeth M
authors.initials: EM
authors.lastname: McDermott
authors.forename: David A
authors.initials: DA
authors.lastname: Walker
authors.forename: Jane C
authors.initials: JC
authors.lastname: Ravenscroft
mesh_terms: D002648:Child; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D004476:Ectodermal Dysplasia / Q000150:complications / Q000235:genetics; D053358:Ectodermal Dysplasia 1, Anhidrotic; D006801:Humans; D051550:I-kappa B Kinase / Q000235:genetics*; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000235:genetics*; D007184:Incontinentia Pigmenti / Q000150:complications; D008209:Lymphedema / Q000150:complications / Q000235:genetics*; D008297:Male; D009154:Mutation; D010024:Osteoporosis / Q000150:complications / Q000235:genetics*
chemical_list: C491731:IKBKG protein, human; D004247:DNA; D051550:I-kappa B Kinase