{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T20:59:40Z","timestamp":1777928380500,"version":"3.51.4"},"reference-count":23,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2012,1,10]],"date-time":"2012-01-10T00:00:00Z","timestamp":1326153600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Lupus"],"published-print":{"date-parts":[[2012,5]]},"abstract":"<jats:p>Congenital diseases are increasingly being recognised in adults because of clinical mimicry, variable clinical picture or rarity of the disease; pregnancy is a valuable diagnostic occasion. The present case is the first report of an association report between NEMO syndrome (an acronym of the mutated, non-functioning gene, NF-kB essential modulator), a rare X-linked disease, characterised by developmental anomalies, immunodepression and skin lesions, and systemic lupus erythematosus (SLE). A 35-year-old patient affected by SLE sought clinical advice in the 8th week of gestation. The diagnosis of SLE dated back to the age of 24, when multisystemic manifestations (pleuropericarditis, weight loss, alopecia, skin involvement, joint pain, kidney involvement) were observed. She had been treated with steroids since 1999; immunosuppressive drugs had been added for short periods. Developmental anomalies werepresent, including oligodontia, retinal problems, anomalies of the corpus callosum and pes planovalgus. Family history included multiple miscarriages, dental malformations and oligodontia and skin blistering in the first months of life. On these bases, incontinentia pigmenti (IP; or NEMO syndrome) was diagnosed and confirmed by genetic testing. The NEMO gene is implicated in immune deficiencies as well as in autoimmune diseases. This report may suggest a role for NF-kB essential modulator in the pathogenesis of SLE, in the context of thecomplex immunologic deficiencies increasingly associated with autoimmune diseases.<\/jats:p>","DOI":"10.1177\/0961203311433140","type":"journal-article","created":{"date-parts":[[2012,1,10]],"date-time":"2012-01-10T23:59:42Z","timestamp":1326239982000},"page":"675-681","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":13,"title":["NEMO syndrome (incontinentia pigmenti) and systemic lupus erythematosus: A new disease association"],"prefix":"10.1177","volume":"21","author":[{"given":"GB","family":"Piccoli","sequence":"first","affiliation":[{"name":"Nephrology Unit, Department of Clinical and Biological Sciences, San Luigi Hospital, Orbassano, University of Turin, Turin, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Attini","sequence":"additional","affiliation":[{"name":"Materno-Foetal Medicine Unit, Sant\u2019Anna Hospital, University of Turin, Turin, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"FN","family":"Vigotti","sequence":"additional","affiliation":[{"name":"Nephrology Unit, Department of Clinical and Biological Sciences, San Luigi Hospital, Orbassano, University of Turin, Turin, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Naretto","sequence":"additional","affiliation":[{"name":"Department of Genetics, Sant\u2019Anna Hospital, University of Turin, Turin, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Fassio","sequence":"additional","affiliation":[{"name":"Nephrology Unit, Department of Clinical and Biological Sciences, San Luigi Hospital, Orbassano, University of Turin, Turin, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O","family":"Randone","sequence":"additional","affiliation":[{"name":"Nephrology Unit, Department of Clinical and Biological Sciences, San Luigi Hospital, Orbassano, University of Turin, Turin, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Restagno","sequence":"additional","affiliation":[{"name":"CMID, Centre for rare diseases, University of Turin, Turin Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Todros","sequence":"additional","affiliation":[{"name":"Materno-Foetal Medicine Unit, Sant\u2019Anna Hospital, University of Turin, Turin, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Roccatello","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2012,1,10]]},"reference":[{"key":"bibr1-0961203311433140","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(10)60236-X"},{"key":"bibr2-0961203311433140","doi-asserted-by":"publisher","DOI":"10.1016\/j.semnephrol.2010.01.010"},{"key":"bibr3-0961203311433140","volume-title":"GeneReviews","author":"Scheuerle A"},{"key":"bibr4-0961203311433140","first-page":"355","volume":"79","author":"Ehrenreich M","year":"2007","journal-title":"Cutis"},{"key":"bibr5-0961203311433140","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.139.9.1163"},{"key":"bibr6-0961203311433140","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2009.03.514"},{"key":"bibr7-0961203311433140","doi-asserted-by":"publisher","DOI":"10.1038\/85837"},{"key":"bibr8-0961203311433140","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2004.01.762"},{"key":"bibr9-0961203311433140","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.144.3.342"},{"key":"bibr10-0961203311433140","doi-asserted-by":"publisher","DOI":"10.1007\/s12026-008-8085-2"},{"key":"bibr11-0961203311433140","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2006.00302.x"},{"key":"bibr12-0961203311433140","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.immunol.18.1.621"},{"key":"bibr13-0961203311433140","doi-asserted-by":"publisher","DOI":"10.1038\/nri910"},{"key":"bibr14-0961203311433140","doi-asserted-by":"publisher","DOI":"10.1016\/j.coi.2003.11.013"},{"key":"bibr15-0961203311433140","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2010020218"},{"key":"bibr16-0961203311433140","doi-asserted-by":"crossref","unstructured":"Takada H, Nomura A, Ishimura M, Ichiyama M, Ohga S, Hara T. NEMO mutation as a cause of familial occurrence of Beh\u00e7et's disease in female patients.\n                      Clin Genet\n                      2010; 78: 575-579, DOI: 10.1111\/j.1399-0004.2010.01432.x.","DOI":"10.1111\/j.1399-0004.2010.01432.x"},{"key":"bibr17-0961203311433140","doi-asserted-by":"publisher","DOI":"10.1186\/ar2457"},{"key":"bibr18-0961203311433140","doi-asserted-by":"publisher","DOI":"10.1002\/art.1780400928"},{"key":"bibr19-0961203311433140","doi-asserted-by":"publisher","DOI":"10.1016\/j.rdc.2005.01.009"},{"key":"bibr20-0961203311433140","doi-asserted-by":"publisher","DOI":"10.1038\/nm1201-1291"},{"key":"bibr21-0961203311433140","doi-asserted-by":"publisher","DOI":"10.1016\/j.biocel.2009.12.016"},{"key":"bibr22-0961203311433140","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2007.07.009"},{"key":"bibr23-0961203311433140","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20080108"}],"container-title":["Lupus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0961203311433140","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0961203311433140","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0961203311433140","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T23:11:35Z","timestamp":1777677095000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0961203311433140"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,1,10]]},"references-count":23,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2012,5]]}},"alternative-id":["10.1177\/0961203311433140"],"URL":"https:\/\/doi.org\/10.1177\/0961203311433140","relation":{},"ISSN":["0961-2033","1477-0962"],"issn-type":[{"value":"0961-2033","type":"print"},{"value":"1477-0962","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,1,10]]}}}