{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T12:23:43Z","timestamp":1791894223458,"version":"4.3.4"},"reference-count":33,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2000,12,1]],"date-time":"2000-12-01T00:00:00Z","timestamp":975628800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":4613,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2000,12]]},"DOI":"10.1086\/316914","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T18:47:54Z","timestamp":1027709274000},"page":"1555-1562","source":"Crossref","is-referenced-by-count":478,"title":["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)"],"prefix":"10.1016","volume":"67","author":[{"given":"Jonathan","family":"Zonana","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa E.","family":"Elder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynda C.","family":"Schneider","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seth J.","family":"Orlow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Celia","family":"Moss","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahin","family":"Golabi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stuart K.","family":"Shapira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter A.","family":"Farndon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diane W.","family":"Wara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie A.","family":"Emmal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Betsy M.","family":"Ferguson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/316914_bib1","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1007\/BF02075774","article-title":"Anhidrotic ectodermal dysplasia associated with specific antibody deficiency","volume":"155","author":"Abinun","year":"1996","journal-title":"Eur J Pediatr"},{"key":"10.1086\/316914_bib2","doi-asserted-by":"crossref","first-page":"989","DOI":"10.1136\/adc.62.10.989","article-title":"Clinical aspects of X-linked hypohidrotic ectodermal dysplasia","volume":"62","author":"Clarke","year":"1987","journal-title":"Arch Dis Child"},{"key":"10.1086\/316914_bib3","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1016\/0959-437X(94)90028-0","article-title":"X-linked immunodeficiencies","volume":"4","author":"Conley","year":"1994","journal-title":"Curr Opin Genet Dev"},{"key":"10.1086\/316914_bib4","doi-asserted-by":"crossref","first-page":"953","DOI":"10.1084\/jem.185.5.953","article-title":"NF-kappa B RelA-deficient lymphocytes: normal development of T cells and B cells, impaired production of IgA and IgG1 and reduced proliferative responses","volume":"185","author":"Doi","year":"1997","journal-title":"J Exp Med"},{"key":"10.1086\/316914_bib5","doi-asserted-by":"crossref","first-page":"2412","DOI":"10.1101\/gad.13.18.2412","article-title":"RANK is essential for osteoclast and lymph node development","volume":"13","author":"Dougall","year":"1999","journal-title":"Genes Dev"},{"key":"10.1086\/316914_bib6","doi-asserted-by":"crossref","first-page":"2079","DOI":"10.1093\/hmg\/8.11.2079","article-title":"Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells","volume":"8","author":"Ezer","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.1086\/316914_bib7","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1136\/jmg.35.2.112","article-title":"Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications","volume":"35","author":"Ferguson","year":"1998","journal-title":"J Med Genet"},{"key":"10.1086\/316914_bib8","doi-asserted-by":"crossref","first-page":"3482","DOI":"10.1101\/gad.11.24.3482","article-title":"Requirement for NF-kappaB in osteoclast and B-cell development","volume":"11","author":"Franzoso","year":"1997","journal-title":"Genes Dev"},{"key":"10.1086\/316914_bib9","first-page":"3","article-title":"Ectodermal dysplasias\u2014some recollections and a classification","volume":"24","author":"Freire-Maia","year":"1988","journal-title":"Birth Defects"},{"key":"10.1086\/316914_bib10","doi-asserted-by":"crossref","first-page":"22911","DOI":"10.1074\/jbc.274.33.22911","article-title":"IKKgamma serves as a docking subunit of the IkappaB kinase (IKK) and mediates interaction of IKK with the human T-cell leukemia virus Tax protein","volume":"274","author":"Harhaj","year":"1999","journal-title":"J Biol Chem"},{"key":"10.1086\/316914_bib11","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1038\/11943","article-title":"Involvement of a novel Tnf receptor homologue in hair follicle induction","volume":"22","author":"Headon","year":"1999","journal-title":"Nat Genet"},{"key":"10.1086\/316914_bib12","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/S0962-8924(00)01729-3","article-title":"The IKK complex: an integrator of all signals that activate NF-kappaB?","volume":"10","author":"Israel","year":"2000","journal-title":"Trends Cell Biol"},{"key":"10.1086\/316914_bib13","first-page":"115","article-title":"Isolation of full-length cDNA and chromosomal localization of human NF-kappaB modulator NEMO to Xq28","volume":"6","author":"Jin","year":"1999","journal-title":"J Biomed Sci"},{"key":"10.1086\/316914_bib14","doi-asserted-by":"crossref","first-page":"999","DOI":"10.1083\/jcb.149.5.999","article-title":"It's got you covered: NF-kappaB in the epidermis","volume":"149","author":"Kaufman","year":"2000","journal-title":"J Cell Biol"},{"key":"10.1086\/316914_bib15","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1136\/jmg.30.1.53","article-title":"Incontinentia pigmenti (Bloch-Sulzberger syndrome)","volume":"30","author":"Landy","year":"1993","journal-title":"J Med Genet"},{"key":"10.1086\/316914_bib16","doi-asserted-by":"crossref","first-page":"969","DOI":"10.1016\/S1097-2765(00)80262-2","article-title":"Female mice heterozygous for IKK gamma\/NEMO deficiencies develop a dermatopathy similar to the human X-linked disorder incontinentia pigmenti","volume":"5","author":"Makris","year":"2000","journal-title":"Mol Cell"},{"key":"10.1086\/316914_bib17","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1038\/11937","article-title":"Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia","volume":"22","author":"Monreal","year":"1999","journal-title":"Nat Genet"},{"key":"10.1086\/316914_bib18","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1086\/301984","article-title":"Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations","volume":"63","author":"Monreal","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1086\/316914_bib19","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1086\/513905","article-title":"Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder","volume":"61","author":"Munoz","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1086\/316914_bib20","doi-asserted-by":"crossref","first-page":"1777","DOI":"10.1093\/hmg\/5.11.1777","article-title":"Selection against mutant alleles in blood leukocytes is a consistent feature in incontinentia pigmenti type 2","volume":"5","author":"Parrish","year":"1996","journal-title":"Hum Mol Genet"},{"key":"10.1086\/316914_bib21","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1007\/BF01541340","article-title":"Molecular and genetic basis of X-linked immunodeficiency disorders","volume":"14","author":"Puck","year":"1994","journal-title":"J Clin Immunol"},{"key":"10.1086\/316914_bib22","doi-asserted-by":"crossref","first-page":"18586","DOI":"10.1074\/jbc.M000531200","article-title":"TTRAP, a novel protein that associates with CD40, tumor necrosis factor (TNF) receptor-75 and TNF receptor-associated factors (TRAFs), and that inhibits nuclear factor-kappa B activation","volume":"275","author":"Pype","year":"2000","journal-title":"J Biol Chem"},{"key":"10.1086\/316914_bib23","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1038\/26261","article-title":"IKK-gamma is an essential regulatory subunit of the IkappaB kinase complex","volume":"395","author":"Rothwarf","year":"1998","journal-title":"Nature"},{"key":"10.1086\/316914_bib24","doi-asserted-by":"crossref","first-page":"854","DOI":"10.1101\/gad.14.7.854","article-title":"Severe liver degeneration and lack of NF-kappaB activation in NEMO\/IKKgamma-deficient mice","volume":"14","author":"Rudolph","year":"2000","journal-title":"Genes Dev"},{"key":"10.1086\/316914_bib25","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1016\/S1097-2765(00)80263-4","article-title":"NEMO\/IKK gamma-deficient mice model incontinentia pigmenti","volume":"5","author":"Schmidt-Supprian","year":"2000","journal-title":"Mol Cell"},{"key":"10.1086\/316914_bib26","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1055\/s-2008-1043834","article-title":"Polysaccharide specific humoral immunodeficiency in ectodermal dysplasia: case report of a boy with two affected brothers (in German)","volume":"211","author":"Schweizer","year":"1999","journal-title":"Klin P\u00e4diatr"},{"key":"10.1086\/316914_bib27","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1016\/0092-8674(95)90415-8","article-title":"Targeted disruption of the p50 subunit of NF-kappa B leads to multifocal defects in immune responses","volume":"80","author":"Sha","year":"1995","journal-title":"Cell"},{"key":"10.1086\/316914_bib28","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1038\/35013114","article-title":"Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti: The International Incontinentia Pigmenti (IP) Consortium","volume":"405","author":"Smahi","year":"2000","journal-title":"Nature"},{"key":"10.1086\/316914_bib29","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1097\/00008480-199712000-00004","article-title":"The molecular basis and treatment of primary immunodeficiency disorders","volume":"9","author":"Smart","year":"1997","journal-title":"Curr Opin Pediatr"},{"key":"10.1086\/316914_bib30","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1016\/S0003-4975(00)01571-X","article-title":"Bilateral sequential lung transplant for ectodermal dysplasia","volume":"70","author":"Smythe","year":"2000","journal-title":"Ann Thorac Surg"},{"key":"10.1086\/316914_bib31","doi-asserted-by":"crossref","first-page":"1679","DOI":"10.1093\/hmg\/2.10.1679","article-title":"Characterisation of molecular DNA rearrangements within the Xq12-q13.1 region, in three patients with X-linked hypohidrotic ectodermal dysplasia (EDA)","volume":"2","author":"Thomas","year":"1993","journal-title":"Hum Mol Genet"},{"key":"10.1086\/316914_bib32","first-page":"275","article-title":"Domain-specific interaction with IKKgamma is an essential step in tax-mediated activation of IKK","author":"Xiao","year":"2000","journal-title":"J Biol Chem"},{"key":"10.1086\/316914_bib33","doi-asserted-by":"crossref","first-page":"1231","DOI":"10.1016\/S0092-8674(00)81466-X","article-title":"Complementation cloning of NEMO, a component of the IkappaB kinase complex essential for NF-kappaB activation","volume":"93","author":"Yamaoka","year":"1998","journal-title":"Cell"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707632236?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707632236?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2023,4,22]],"date-time":"2023-04-22T23:04:49Z","timestamp":1682204689000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707632236"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,12]]},"references-count":33,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2000,12]]}},"alternative-id":["S0002929707632236"],"URL":"https:\/\/doi.org\/10.1086\/316914","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2000,12]]}}}