Comment

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

doi: 10.1086/323003.

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

K Kosaki, N Shimasaki, H Fukushima, M Hara, T Ogata, N Matsuo

PMID: 11484156
PMCID: PMC1235496
DOI: 10.1086/323003

Comment

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

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

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

doi: 10.1086/323003.

Authors

K Kosaki, N Shimasaki, H Fukushima, M Hara, T Ogata, N Matsuo

PMID: 11484156
PMCID: PMC1235496
DOI: 10.1086/323003

No abstract available

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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.

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An Atypical Incontinentia Pigmenti Female with Persistent Mucocutaneous Hyperinflammation and Immunodeficiency Caused by a Novel Germline IKBKG Missense Mutation.
Mou W, Zhao Z, Gao L, Fu L, Li J, Jiao A, Peng Y, Yu T, Guo Y, Chen L, Wang H, Liu J, Qin Q, Xu B, Liu X, He J, Gui J. Mou W, et al. J Clin Immunol. 2023 Nov;43(8):2165-2180. doi: 10.1007/s10875-023-01564-x. Epub 2023 Oct 13. J Clin Immunol. 2023. PMID: 37831401
Mutation identification in a canine model of X-linked ectodermal dysplasia.
Casal ML, Scheidt JL, Rhodes JL, Henthorn PS, Werner P. Casal ML, et al. Mamm Genome. 2005 Jul;16(7):524-31. doi: 10.1007/s00335-004-2463-4. Mamm Genome. 2005. PMID: 16151697 Free PMC article.
A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency.
Martinez-Pomar N, Munoz-Saa I, Heine-Suner D, Martin A, Smahi A, Matamoros N. Martinez-Pomar N, et al. Hum Genet. 2005 Dec;118(3-4):458-65. doi: 10.1007/s00439-005-0068-y. Epub 2005 Oct 14. Hum Genet. 2005. PMID: 16228229

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References

Electronic-Database Information

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

References

1. Akiyama M, Aranami A, Sakaki Y, Ebihara T, Sugiura M (1994) Familial linear and whorled nevoid hypermelanosis. J Am Acad Dermatol 30:831–833 - PubMed
1. Aradhya S, Courtois G, Rajkovic A, Lewis RA, Levy M, Israel A, Nelson F (2001) Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-γ). Am J Hum Genet 68:765–771 - PMC - PubMed
1. Landy SJ, Donnai D (1993) Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet 30:53–59 - PMC - PubMed
1. Parrish JE, Scheuerle AE, Lewis RA, Levy ML, Nelson DL (1996) Selection against mutant alleles in blood leukocytes is a consistent feature in incontinentia pigmenti type 2. Hum Mol Genet 5:1777–1783 - PubMed
1. Smahi A, Courtois G, Vabres P, Yamaoka S, Heuertz S, Munnich A, Israel A, et al (2000) Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti: the International Incontinentia Pigmenti (IP) Consortium. Nature 405:466–472 - PubMed

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

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

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