{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T12:55:18Z","timestamp":1791291318092,"version":"4.3.0"},"reference-count":12,"publisher":"American Academy of Pediatrics (AAP)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2005,5,1]]},"abstract":"<jats:p>X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency is a developmental and immunologic disorder caused by mutations in nuclear factor-\u03baB essential modulator (NEMO), which is essential for nuclear factor-\u03baB activation. Early in life, affected boys present a typical appearance, with hypotrichosis or atrichosis, hypohidrosis or anhidrosis, and hypodontia or anodontia with conical incisors. They are also susceptible to various microorganisms, mostly pyogenic bacteria and mycobacteria. Here we report 2 unrelated boys, aged 6 and 11 years, who have novel mutations in NEMO and present conical incisors and hypodontia as their sole and long-unrecognized developmental anomaly. One child had isolated recurrent pneumococcal disease, whereas the other had multiple infections. Our observations indicate that conical incisors should prompt the search for NEMO mutations in boys with unusual infectious diseases.<\/jats:p>","DOI":"10.1542\/peds.2004-1754","type":"journal-article","created":{"date-parts":[[2005,4,16]],"date-time":"2005-04-16T00:25:41Z","timestamp":1113611141000},"page":"e615-e619","source":"Crossref","is-referenced-by-count":64,"title":["<i>NEMO<\/i> Mutations in 2 Unrelated Boys With Severe Infections and Conical Teeth"],"prefix":"10.1542","volume":"115","author":[{"given":"Cheng-Lung","family":"Ku","sequence":"first","affiliation":[{"name":"Laboratory of Human Genetics of Infectious Diseases, University of Paris Rene\u0301 Descartes-Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale U550, Necker Medical School, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Dupuis-Girod","sequence":"additional","affiliation":[{"name":"Pediatric Hematology-Immunology, Debrousse Hospital, Lyon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna-Maria","family":"Dittrich","sequence":"additional","affiliation":[{"name":"Pediatric Pneumology and Immunology, Charite-Campus Virchow Klinikum, Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacinta","family":"Bustamante","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics of Infectious Diseases, University of Paris Rene\u0301 Descartes-Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale U550, Necker Medical School, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orchide\u0301e Filipe","family":"Santos","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics of Infectious Diseases, University of Paris Rene\u0301 Descartes-Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale U550, Necker Medical School, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilka","family":"Schulze","sequence":"additional","affiliation":[{"name":"Pediatric Pneumology and Immunology, Charite-Campus Virchow Klinikum, Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yves","family":"Bertrand","sequence":"additional","affiliation":[{"name":"Pediatric Hematology-Immunology, Debrousse Hospital, Lyon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ge\u0301rard","family":"Couly","sequence":"additional","affiliation":[{"name":"Stomatology, Necker Hospital, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Bodemer","sequence":"additional","affiliation":[{"name":"Dermatology, Necker Hospital, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xavier","family":"Bossuyt","sequence":"additional","affiliation":[{"name":"Laboratory of Experimental Medicine, University Hospital Leuven, Leuven, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Capucine","family":"Picard","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics of Infectious Diseases, University of Paris Rene\u0301 Descartes-Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale U550, Necker Medical School, Paris, France"},{"name":"Pediatric Hematology-Immunology, Necker Hospital, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Laurent","family":"Casanova","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics of Infectious Diseases, University of Paris Rene\u0301 Descartes-Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale U550, Necker Medical School, Paris, France"},{"name":"Pediatric Hematology-Immunology, Necker Hospital, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2005,5,1]]},"reference":[{"key":"2021120819291733000_R1","doi-asserted-by":"crossref","unstructured":"Abinun M. Ectodermal dysplasia and immunodeficiency. Arch Dis Child.\u20081995;73:185","DOI":"10.1136\/adc.73.2.185"},{"key":"2021120819291733000_R2","doi-asserted-by":"crossref","unstructured":"Zonana J, Elder ME, Schneider LC, et al. 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.\u20082000;67:1555\u20131562","DOI":"10.1086\/316914"},{"key":"2021120819291733000_R3","doi-asserted-by":"crossref","unstructured":"Doffinger R, Smahi A, Bessia C, et al. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-\u03baB signaling. Nat Genet.\u20082001;27:277\u2013285","DOI":"10.1038\/85837"},{"key":"2021120819291733000_R4","doi-asserted-by":"crossref","unstructured":"Jain A, Ma CA, Liu S, Brown M, Cohen J, Strober W. Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. 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Am J Hum Genet.\u20082001;69:664\u2013666","DOI":"10.1086\/323003"},{"key":"2021120819291733000_R8","doi-asserted-by":"crossref","unstructured":"Dupuis-Girod S, Corradini, N, Hadj-Rabia S, et al. Osteopetrosis, lymphedema, anhydrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother. Pediatrics.\u20082002;109(6). Available at: www.pediatrics.org\/cgi\/content\/full\/109\/6\/e97","DOI":"10.1542\/peds.109.6.e97"},{"key":"2021120819291733000_R9","doi-asserted-by":"crossref","unstructured":"Carrol ED, Gennery AR, Flood TJ, Spickett GP, Abinun M. Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO. Arch Dis Child.\u20082003;88:340\u2013341","DOI":"10.1136\/adc.88.4.340"},{"key":"2021120819291733000_R10","doi-asserted-by":"crossref","unstructured":"Puel A, Picard C, Ku CL, Smahi A, Casanova JL. Inherited disorders of NF-\u03baB-mediated immunity in man. 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J Allergy Clin Immunol.\u20082004;113:725\u2013733","DOI":"10.1016\/j.jaci.2004.01.762"}],"container-title":["Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/115\/5\/e615\/1028536\/zpe0050500e615.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/115\/5\/e615\/1028536\/zpe0050500e615.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,8]],"date-time":"2021-12-08T21:00:44Z","timestamp":1638997244000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.aap.org\/pediatrics\/article\/115\/5\/e615\/67613\/NEMO-Mutations-in-2-Unrelated-Boys-With-Severe"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,5,1]]},"references-count":12,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2005,5,1]]},"published-print":{"date-parts":[[2005,5,1]]}},"URL":"https:\/\/doi.org\/10.1542\/peds.2004-1754","relation":{},"ISSN":["0031-4005","1098-4275"],"issn-type":[{"value":"0031-4005","type":"print"},{"value":"1098-4275","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,5,1]]}}}