We are analyzing https://link.springer.com/article/10.1007/s00431-010-1206-7.

Title:
A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID) | European Journal of Pediatrics
Description:
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.
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Keywords {🔍}

article, ectodermal, dysplasia, nottingham, hypohidrotic, immunodeficiency, nemo, pigmenti, google, scholar, privacy, cookies, journal, gene, incontinentia, genet, university, hospitals, content, publish, search, mutation, osteopetrosis, roberts, xlinked, access, cas, pubmed, department, derby, road, data, european, information, log, research, pediatrics, lymphoedema, olhedid, report, catherine, angus, leach, features, disorder, discover, med, download, consultant, author,

Topics {✒️}

month download article/chapter x-linked recessive trait impaired nf–kb signalling nf–κβ essential modulator ol-hed-id x-linked disorder article european journal privacy choices/manage cookies full article pdf anhidrotic ectodermal dysplasia european economic area hypohidrotic ectodermal dysplasia conditions privacy policy eccrine sweat glands nottingham university hospitals consultant paediatric oncologist journal finder publish accepting optional cookies short report published hed-id linear pigmentary change main content log author information authors med genet part check access instant access article log give rise related subjects pediatrics article mutation privacy policy personal data congenital disorder article cite essential cookies books a incontinentia pigmenti gene article roberts journal publish optional cookies manage preferences ravenscroft department author correspondence subscription content data protection incotinentia pigmenti cookies skip med genet 99

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         description: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.
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