{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T12:54:27Z","timestamp":1791291267019,"version":"4.3.0"},"reference-count":36,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2004,4,1]],"date-time":"2004-04-01T00:00:00Z","timestamp":1080777600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Allergy and Clinical Immunology"],"published-print":{"date-parts":[[2004,4]]},"DOI":"10.1016\/j.jaci.2004.01.762","type":"journal-article","created":{"date-parts":[[2004,4,26]],"date-time":"2004-04-26T09:21:14Z","timestamp":1082971274000},"page":"725-733","source":"Crossref","is-referenced-by-count":169,"title":["The presentation and natural history of immunodeficiency caused by nuclear factor \u03baB essential modulator mutation"],"prefix":"10.1016","volume":"113","author":[{"given":"Jordan S","family":"Orange","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashish","family":"Jain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zuhair K","family":"Ballas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynda C","family":"Schneider","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raif S","family":"Geha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco A","family":"Bonilla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jaci.2004.01.762_BIB1","doi-asserted-by":"crossref","first-page":"983","DOI":"10.1172\/JCI19960","article-title":"Finding NEMO: genetic disorders of NF-\u03baB activation","volume":"112","author":"Orange","year":"2003","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jaci.2004.01.762_BIB2","doi-asserted-by":"crossref","first-page":"2371","DOI":"10.1093\/hmg\/11.20.2371","article-title":"The NF-\u03baB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes","volume":"11","author":"Smahi","year":"2002","journal-title":"Hum Mol Genet"},{"issue":"suppl","key":"10.1016\/j.jaci.2004.01.762_BIB3","doi-asserted-by":"crossref","first-page":"S81","DOI":"10.1016\/S0092-8674(02)00703-1","article-title":"Missing pieces in the NF-\u03baB puzzle","volume":"109","author":"Ghosh","year":"2002","journal-title":"Cell"},{"key":"10.1016\/j.jaci.2004.01.762_BIB4","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":"10.1016\/j.jaci.2004.01.762_BIB5","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1038\/ng0895-409","article-title":"X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein","volume":"13","author":"Kere","year":"1996","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2004.01.762_BIB6","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":"10.1016\/j.jaci.2004.01.762_BIB7","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1038\/414913a","article-title":"Gene defect in ectodermal dysplasia implicates a death domain adapter in development","volume":"414","author":"Headon","year":"2001","journal-title":"Nature"},{"key":"10.1016\/j.jaci.2004.01.762_BIB8","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1126\/science.284.5412.313","article-title":"Limb and skin abnormalities in mice lacking IKK\u03b1","volume":"284","author":"Takeda","year":"1999","journal-title":"Science"},{"key":"10.1016\/j.jaci.2004.01.762_BIB9","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1126\/science.284.5412.316","article-title":"Abnormal morphogenesis but intact IKK activation in mice lacking the IKK\u03b1 subunit of I\u03baB kinase","volume":"284","author":"Hu","year":"1999","journal-title":"Science"},{"key":"10.1016\/j.jaci.2004.01.762_BIB10","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1038\/35013114","article-title":"Genomic rearrangement in NEMO impairs NF-\u03baB activation and is a cause of incontinentia pigmenti","volume":"405","author":"Smahi","year":"2000","journal-title":"Nature"},{"key":"10.1016\/j.jaci.2004.01.762_BIB11","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":"10.1016\/j.jaci.2004.01.762_BIB12","doi-asserted-by":"crossref","first-page":"115","DOI":"10.2340\/0001555556115120","article-title":"Cellular immunodeficiency in anhidrotic ectodermal dysplasia","volume":"56","author":"Davis","year":"1976","journal-title":"Acta Derm Venereol"},{"key":"10.1016\/j.jaci.2004.01.762_BIB13","first-page":"417","article-title":"Anhidrotic ectodermal dysplasia with transient hypogammaglobulinemia","volume":"28","author":"Huntley","year":"1981","journal-title":"Cutis"},{"key":"10.1016\/j.jaci.2004.01.762_BIB14","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":"10.1016\/j.jaci.2004.01.762_BIB15","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","volume":"211","author":"Schweizer","year":"1999","journal-title":"Klin Padiatr"},{"key":"10.1016\/j.jaci.2004.01.762_BIB16","doi-asserted-by":"crossref","first-page":"1555","DOI":"10.1086\/316914","article-title":"A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-\u03b3 (NEMO)","volume":"67","author":"Zonana","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaci.2004.01.762_BIB17","doi-asserted-by":"crossref","first-page":"2171","DOI":"10.1093\/hmg\/10.19.2171","article-title":"A recurrent deletion in the ubiquitously expressed NEMO (IKK-\u03b3) gene accounts for the vast majority of incontinentia pigmenti mutations","volume":"10","author":"Aradhya","year":"2001","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jaci.2004.01.762_BIB18","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1002\/1096-8628(2001)9999:9999<::AID-AJMG1155>3.0.CO;2-Y","article-title":"Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection","volume":"99","author":"Mansour","year":"2001","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jaci.2004.01.762_BIB19","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1038\/85277","article-title":"Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia","volume":"2","author":"Jain","year":"2001","journal-title":"Nat Immunol"},{"key":"10.1016\/j.jaci.2004.01.762_BIB20","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1038\/85837","article-title":"X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-\u03baB signaling","volume":"27","author":"Doffinger","year":"2001","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2004.01.762_BIB21","doi-asserted-by":"crossref","first-page":"1501","DOI":"10.1172\/JCI0214858","article-title":"Deficient natural killer cell cytotoxicity in patients with IKK-\u03b3\/NEMO mutations","volume":"109","author":"Orange","year":"2002","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jaci.2004.01.762_BIB22","doi-asserted-by":"crossref","first-page":"e97","DOI":"10.1542\/peds.109.6.e97","article-title":"Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother","volume":"109","author":"Dupuis-Girod","year":"2002","journal-title":"Pediatrics"},{"key":"10.1016\/j.jaci.2004.01.762_BIB23","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1016\/S1074-7613(03)00149-3","article-title":"C4b-binding protein (C4BP) activates B cells through the CD40 receptor","volume":"18","author":"Brodeur","year":"2003","journal-title":"Immunity"},{"key":"10.1016\/j.jaci.2004.01.762_BIB24","doi-asserted-by":"crossref","first-page":"2170","DOI":"10.1073\/pnas.90.6.2170","article-title":"Defective expression of the CD40 ligand in X chromosome-linked immunoglobulin deficiency with normal or elevated IgM","volume":"90","author":"Fuleihan","year":"1993","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jaci.2004.01.762_BIB25","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1002\/humu.10150","article-title":"Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO\/IKK\u03b3 gene deletion","volume":"21","author":"Bardaro","year":"2003","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jaci.2004.01.762_BIB26","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1056\/NEJM198903163201104","article-title":"An immunodeficiency characterized by defective signal transduction in T lymphocytes","volume":"320","author":"Chatila","year":"1989","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2004.01.762_BIB27","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1016\/S0022-3476(97)70200-2","article-title":"Immunophenotyping of blood lymphocytes in childhood. Reference values for lymphocyte subpopulations","volume":"130","author":"Comans-Bitter","year":"1997","journal-title":"J Pediatr"},{"key":"10.1016\/j.jaci.2004.01.762_BIB28","doi-asserted-by":"crossref","first-page":"11351","DOI":"10.1073\/pnas.162376099","article-title":"Wiskott-Aldrich syndrome protein is required for NK cell cytotoxicity and colocalizes with actin to NK cell-activating immunologic synapses","volume":"99","author":"Orange","year":"2002","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jaci.2004.01.762_BIB29","doi-asserted-by":"crossref","first-page":"1630","DOI":"10.4049\/jimmunol.171.4.1630","article-title":"Toll-like receptors in health and disease: complex questions remain","volume":"171","author":"Sabroe","year":"2003","journal-title":"J Immunol"},{"key":"10.1016\/j.jaci.2004.01.762_BIB30","doi-asserted-by":"crossref","first-page":"1108","DOI":"10.1172\/JCI18714","article-title":"A hypermorphic Ik\u03b1B\u03b1 mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency","volume":"112","author":"Courtois","year":"2003","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jaci.2004.01.762_BIB31","doi-asserted-by":"crossref","first-page":"2076","DOI":"10.1126\/science.1081902","article-title":"Pyogenic bacterial infections in humans with IRAK-4 deficiency","volume":"299","author":"Picard","year":"2003","journal-title":"Science"},{"key":"10.1016\/j.jaci.2004.01.762_BIB32","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1038\/nature01802","article-title":"The tumour suppressor CYLD negatively regulates NF-\u03baB signalling by deubiquitination","volume":"424","author":"Kovalenko","year":"2003","journal-title":"Nature"},{"key":"10.1016\/j.jaci.2004.01.762_BIB33","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1038\/76006","article-title":"Identification of the familial cylindromatosis tumour-suppressor gene","volume":"25","author":"Bignell","year":"2000","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2004.01.762_BIB34","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1038\/nature01803","article-title":"CYLD is a deubiquitinating enzyme that negatively regulates NF-\u03baB activation by TNFR family members","volume":"424","author":"Trompouki","year":"2003","journal-title":"Nature"},{"key":"10.1016\/j.jaci.2004.01.762_BIB35","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1097\/00002281-200307000-00009","article-title":"Hyper IgM syndromes","volume":"15","author":"Gulino","year":"2003","journal-title":"Curr Opin Rheumatol"},{"key":"10.1016\/j.jaci.2004.01.762_BIB36","doi-asserted-by":"crossref","first-page":"1545","DOI":"10.1016\/S1286-4579(02)00038-2","article-title":"Human natural killer cell deficiencies and susceptibility to infection","volume":"4","author":"Orange","year":"2002","journal-title":"Microbes Infect"}],"container-title":["Journal of Allergy and Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674904009182?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674904009182?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,1,13]],"date-time":"2024-01-13T05:46:53Z","timestamp":1705124813000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0091674904009182"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,4]]},"references-count":36,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2004,4]]}},"alternative-id":["S0091674904009182"],"URL":"https:\/\/doi.org\/10.1016\/j.jaci.2004.01.762","relation":{},"ISSN":["0091-6749"],"issn-type":[{"value":"0091-6749","type":"print"}],"subject":[],"published":{"date-parts":[[2004,4]]}}}