Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID)

Comment

K Kosaki et al. Am J Hum Genet. 2001 Sep.

. 2001 Sep;69(3):664-6.

doi: 10.1086/323003.

No abstract available

Comment on

A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO).
Zonana J, Elder ME, Schneider LC, Orlow SJ, Moss C, Golabi M, Shapira SK, Farndon PA, Wara DW, Emmal SA, Ferguson BM. Zonana J, et al. Am J Hum Genet. 2000 Dec;67(6):1555-62. doi: 10.1086/316914. Epub 2000 Oct 24. Am J Hum Genet. 2000. PMID: 11047757 Free PMC article.
Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma).
Aradhya S, Courtois G, Rajkovic A, Lewis RA, Levy M, Israël A, Nelson DL. Aradhya S, et al. Am J Hum Genet. 2001 Mar;68(3):765-71. doi: 10.1086/318806. Epub 2001 Feb 8. Am J Hum Genet. 2001. PMID: 11179023 Free PMC article.

1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim/ (for IP [MIM 308300] and HED-ID [MIM 300291])

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