{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T18:01:12Z","timestamp":1791223272675,"version":"4.1.0"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"3-4","license":[{"start":{"date-parts":[[2005,10,14]],"date-time":"2005-10-14T00:00:00Z","timestamp":1129248000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[2005,12]]},"DOI":"10.1007\/s00439-005-0068-y","type":"journal-article","created":{"date-parts":[[2005,10,14]],"date-time":"2005-10-14T11:40:39Z","timestamp":1129290039000},"page":"458-465","source":"Crossref","is-referenced-by-count":58,"title":["A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency"],"prefix":"10.1007","volume":"118","author":[{"given":"Natalia","family":"Martinez-Pomar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivan","family":"Munoz-Saa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damian","family":"Heine-Suner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Martin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asma","family":"Smahi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nuria","family":"Matamoros","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2005,10,14]]},"reference":[{"key":"68_CR1","first-page":"1229","volume":"51","author":"RC Allen","year":"1992","unstructured":"Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW (1992). Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen receptor gene correlates with X chromosome inactivation. Am J Hum Genet 51:1229\u20131239","journal-title":"Am J Hum Genet"},{"key":"68_CR2","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1086\/318806","volume":"68","author":"S Aradhya","year":"2001","unstructured":"Aradhya S, Courtois G, Rajkovic A, Lewis RA, Levy M, Israel A, Nelson DL (2001a) Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-\u03b3). Am J Hum Genet 68:765\u2013771","journal-title":"Am J Hum Genet"},{"key":"68_CR3","doi-asserted-by":"crossref","first-page":"2171","DOI":"10.1093\/hmg\/10.19.2171","volume":"10","author":"S Aradhya","year":"2001","unstructured":"Aradhya S, Woffendin H, Jakins T, Bardaro T, Esposito T, Smahi A, Shaw C, Levy M, Munnich A, D\u2019Urso M, Lewis RA, Kenwrick S, Nelson DL (2001b) A recurrent deletion in the ubiquitously expressed NEMO (IKK-\u03b3) gene accounts for the vast majority of incontinentia pigmenti mutations. Hum Mol Genet 10:2171\u20132179","journal-title":"Hum Mol Genet"},{"key":"68_CR4","doi-asserted-by":"crossref","first-page":"1108","DOI":"10.1172\/JCI18714","volume":"112","author":"G Courtois","year":"2003","unstructured":"Courtois G, Smahi A, Reichenbach J, Doffinger R, Cancrini C, Bonnet M, Puel A, Chable-Bessia C, Yamaoka S, Feinberg J, Dupuis-Girod S, Bodemer C, Livadiotti S, Novelli F, Rossi P, Fischer A, Israel A, Munnich A, Le Deist F, Casanova JL (2003) A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. J Clin Invest 112:1108\u20131105","journal-title":"J Clin Invest"},{"key":"68_CR5","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1203\/00006450-200004000-00019","volume":"47","author":"E Vries de","year":"2000","unstructured":"de Vries E, de Bruin-Versteeg S, Comans-Bitter WM, de Groot R, Hop WC, Boerma GJ, Lotgering FK, van Dongen JJ (2000). Longitudinal survey of lymphocyte subpopulations in the first year of life. Pediatr Res 47:528\u2013537","journal-title":"Pediatr Res"},{"key":"68_CR6","doi-asserted-by":"crossref","first-page":"1763","DOI":"10.1093\/hmg\/ddh192","volume":"13","author":"F Fusco","year":"2004","unstructured":"Fusco F, Bardaro T, Fimiani G, Mercadante V, Miano MG, Falco G, Israel A, Courtois G, D\u2019Urso M, Ursini MV (2004) Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-\u03baB activation. Hum Mol Genet 13:1763\u20131763","journal-title":"Hum Mol Genet"},{"key":"68_CR7","doi-asserted-by":"crossref","first-page":"1163","DOI":"10.1001\/archderm.139.9.1163","volume":"139","author":"S Hadj-Rabia","year":"2003","unstructured":"Hadj-Rabia S, Froidevaux D, Bodak N, Hamel-Teillac D, Smahi A, Touil Y, Fraitag S, de Prost Y, Bodemer C (2003) Clinical study of 40 cases of incontinentia pigmenti. Arch Dermatol 139:1163\u20131170","journal-title":"Arch Dermatol"},{"key":"68_CR8","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1002\/ajmg.a.20160","volume":"122","author":"D Heine-Suner","year":"2003","unstructured":"Heine-Suner D, Torres-Juan L, Morla M, Busquets X, Barcelo F, Pico G, Bonilla L, Govea N, Bernues M, Rosell J (2003) Fragile-X syndrome and skewed X-chromosome inactivation within a family: a female member with complete inactivation of the functional X chromosome. Am J Med Genet 122:108\u2013114","journal-title":"Am J Med Genet"},{"key":"68_CR9","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1038\/35013114","volume":"405","author":"IP International Consortium","year":"2000","unstructured":"International IP Consortium (2000) Genomic rearrangement in NEMO impairs NF-\u03baB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature 405:466\u2013472","journal-title":"Nature"},{"key":"68_CR10","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/S0962-8924(00)01729-3","volume":"10","author":"A Israel","year":"2000","unstructured":"Israel A (2000) The IKK complex an integrator of all signals that activate NF-\u03baB? Trends Cell Biol 10:129\u2013133","journal-title":"Trends Cell Biol"},{"key":"68_CR11","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1038\/85277","volume":"2","author":"A Jain","year":"2001","unstructured":"Jain A, Ma CA, Liu S, Brown M, Cohen J, Strober W (2001) Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohidrotic ectodermal dysplasia. Nature Immunol 2:223\u2013228","journal-title":"Nature Immunol"},{"issue":"5","key":"68_CR12","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1084\/jem.20040773","volume":"200","author":"R Janssen","year":"2004","unstructured":"Janssen R, van Wengen A, Hoeve MA, ten Dam M, van der Burg M, van Dongen J, van de Vosse E, van Tol M, Bredius R, Ottenhoff TH, Weemaes C, van Dissel JT, Lankester A (2004) The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes. J Exp Med 200(5):559\u2013568","journal-title":"J Exp Med"},{"key":"68_CR13","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1086\/323003","volume":"69","author":"K Kosaki","year":"2001","unstructured":"Kosaki K, Shimasaki N, Fukushima H, Hara M, Ogata T, Matsuo N (2001) Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID). Am J Hum Genet 69:664\u2013665","journal-title":"Am J Hum Genet"},{"key":"68_CR14","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1136\/jmg.30.1.53","volume":"30","author":"SJ Landy","year":"1993","unstructured":"Landy SJ, Donnai D (1993) Incontinentia pigmenti (Blosch\u2013Sulzberger syndrome). J Med Genet 30:53\u201359","journal-title":"J Med Genet"},{"key":"68_CR15","doi-asserted-by":"crossref","first-page":"6573","DOI":"10.1128\/MCB.22.18.6573-6581.2002","volume":"22","author":"C Makris","year":"2002","unstructured":"Makris C, Roberts JL, Karin M (2002). The carboxyl-terminal region of IkappaB kinase gamma (IKKgamma) is required for full IKK activation. Mol Cell Biol 22:6573\u20136581","journal-title":"Mol Cell Biol"},{"key":"68_CR16","doi-asserted-by":"crossref","first-page":"1456","DOI":"10.1016\/j.jaci.2004.08.047","volume":"114","author":"T Niehues","year":"2004","unstructured":"Niehues T, Reichenbach J, Neubert J, Gudowius S, Puel A, Horneff G, Lainka E, Dirksen U, Schroten H, Doffinger R, Casanova JL, Wahn V (2004) Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia. J Allergy Clin Immunol 114:1456\u20131462","journal-title":"J Allergy Clin Immunol"},{"key":"68_CR17","doi-asserted-by":"crossref","first-page":"4565","DOI":"10.1182\/blood-2003-10-3655","volume":"103","author":"R Nishikomori","year":"2004","unstructured":"Nishikomori R, Akutagawa H, Maruyama K, Nakata-Hizume M, Ohmori K, Mizuno K, Yachie A, Yasumi T, Kusunoki T, Heike T, Nakahata T (2004) X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and\/or survival. Blood 103:4565\u20134572","journal-title":"Blood"},{"key":"68_CR18","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1016\/j.jaci.2004.06.052","volume":"114","author":"JS Orange","year":"2004","unstructured":"Orange JS, Levy O, Brodeur SR, Krzewski K, Roy RM, Niemela JE, Fleisher TA, Bonilla FA, Geha RS (2004) Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia. J Allergy Clin Immunol 114:650\u2013656","journal-title":"J Allergy Clin Immunol"},{"key":"68_CR19","doi-asserted-by":"crossref","first-page":"1777","DOI":"10.1093\/hmg\/5.11.1777","volume":"5","author":"JE Parrish","year":"1996","unstructured":"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\u20131783","journal-title":"Hum Mol Genet"},{"key":"68_CR20","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1038\/26261","volume":"395","author":"DM Rothwarf","year":"1998","unstructured":"Rothwarf DM, Zandi E, Natoli G, Karin M (1998) IKK-\u03b3 is essential regulatory subunit of the I\u03baB kinase complex. Nature 395:297\u2013300","journal-title":"Nature"},{"issue":"4","key":"68_CR21","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1007\/s004390000382","volume":"107","author":"A Sharp","year":"2000","unstructured":"Sharp A, Robinson D, Jacobs P (2000) Age- and tissue-specific variation of X\u00a0chromosome inactivation ratios in normal women. Hum Genet 107(4):343\u2013349","journal-title":"Hum Genet"},{"key":"68_CR22","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1016\/S1097-2765(00)80263-4","volume":"5","author":"M Schmidt-Supprian","year":"2000","unstructured":"Schmidt-Supprian M, Bloch W, Courtois G, Addicks K, Israel A, Rajewsky K, Pasparakis M (2000) NEMO\/IKK gamma-deficient mice model incontinentia pigmenti. Mol Cell 5:981\u2013992","journal-title":"Mol Cell"},{"key":"68_CR23","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1016\/S1074-7613(03)00237-1","volume":"19","author":"M Schmidt-Supprian","year":"2003","unstructured":"Schmidt-Supprian M, Courtois G, Tian J, Coyle AJ, Israel A, Rajewsky K, Pasparakis M (2003) Mature T cells depend on signalling through the IKK complex. Immunity 19:377\u2013389","journal-title":"Immunity"},{"key":"68_CR24","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1001\/archderm.1938.01480130060009","volume":"38","author":"MB Sulzberger","year":"1993","unstructured":"Sulzberger MB (1993) Incontinentia pigmenti (Blosch\u2013Sulzberger syndrome): a report of an additional case, with comment on possible relation to a new syndrome of familial and congenital abnormalies. Arch Dermatol 38:57\u201369","journal-title":"Arch Dermatol"},{"key":"68_CR25","doi-asserted-by":"crossref","first-page":"1555","DOI":"10.1086\/316914","volume":"67","author":"J Zonana","year":"2000","unstructured":"Zonana J, Elder ME, Schneider LC, Orlow SJ, Moss C, Golabi M, Shapira SK, Farndon PA, Wara DW, Emmal SA, Ferguson BM (2000) 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). Am J Hum Genet 67:1555\u20131562","journal-title":"Am J Hum Genet"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-005-0068-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00439-005-0068-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-005-0068-y","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,28]],"date-time":"2019-05-28T23:25:43Z","timestamp":1559085943000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00439-005-0068-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,10,14]]},"references-count":25,"journal-issue":{"issue":"3-4","published-print":{"date-parts":[[2005,12]]}},"alternative-id":["68"],"URL":"https:\/\/doi.org\/10.1007\/s00439-005-0068-y","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,10,14]]}}}