{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T12:33:53Z","timestamp":1789475633545,"version":"build-2803163510"},"reference-count":29,"publisher":"Springer Science and Business Media LLC","license":[{"start":{"date-parts":[[2014,2,28]],"date-time":"2014-02-28T00:00:00Z","timestamp":1393545600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Clin Immunol"],"DOI":"10.1007\/s10875-014-9998-2","type":"journal-article","created":{"date-parts":[[2014,2,27]],"date-time":"2014-02-27T09:56:00Z","timestamp":1393494960000},"source":"Crossref","is-referenced-by-count":3,"title":["Correlating Interleukin-12 Stimulated Interferon-\u03b3 Production and the Absence of Ectodermal Dysplasia and Anhidrosis (EDA) in Patients with Mutations in NF-\u03baB Essential Modulator (NEMO)"],"prefix":"10.1007","author":[{"given":"Margje H.","family":"Haverkamp","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatriz E.","family":"Marciano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David M.","family":"Frucht","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashish","family":"Jain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"van de Vosse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven M.","family":"Holland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2014,2,28]]},"reference":[{"key":"9998_CR1","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1146\/annurev.immunol.18.1.621","volume":"18","author":"M Karin","year":"2002","unstructured":"Karin M, Ben-Neriah B. Phosphorylation meets ubiquitination: the control of NF-\u03baB activity. Ann Rev Immunol. 2002;18:621\u201363.","journal-title":"Ann Rev Immunol"},{"key":"9998_CR2","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1016\/j.jaci.2008.08.018","volume":"122","author":"EP Hanson","year":"2008","unstructured":"Hanson EP, Monaco-Shawver L, Solt LA, Madge LA, Banerjee PP, May MJ, et al. Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity. J Allergy Clin Immunol. 2008;122:1169\u201377.","journal-title":"J Allergy Clin Immunol"},{"key":"9998_CR3","doi-asserted-by":"crossref","first-page":"2371","DOI":"10.1093\/hmg\/11.20.2371","volume":"11","author":"A Smahi","year":"2002","unstructured":"Smahi A, Courtois G, Rabia SH, Doffinger R, Bodemer C, Munnich A, et al. The NF-kappaB signaling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasia and immune-deficiency syndromes. Hum Mol Genet. 2002;11:2371\u20135.","journal-title":"Hum Mol Genet"},{"key":"9998_CR4","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1146\/annurev.immunol.021908.132641","volume":"27","author":"S Vallabhapurapu","year":"2009","unstructured":"Vallabhapurapu S, Karin M. Regulation and function of NF-kappaB transcription factors in the immune system. Ann Rev Immunol. 2009;27:693\u2013733.","journal-title":"Ann Rev Immunol"},{"key":"9998_CR5","doi-asserted-by":"crossref","first-page":"1125","DOI":"10.1002\/eji.1830250442","volume":"25","author":"U Shu","year":"1995","unstructured":"Shu U, Kiniwa M, Wu CY, Maliszewski C, Vezzio N, Hakimi J, et al. Activated T cells induce interleukin-12 production by monocytes via CD40-CD40 ligand interaction. Eur J Immunol. 1995;25:1125\u20138.","journal-title":"Eur J Immunol"},{"key":"9998_CR6","doi-asserted-by":"crossref","first-page":"2324","DOI":"10.1182\/blood-2006-04-017210","volume":"108","author":"ST Temmerman","year":"2006","unstructured":"Temmerman ST, Ma CA, Borges L, Kubin M, Liu S, Derry JM, et al. Impaired dendritic-cell function in ectodermal dysplasia with immune deficiency is linked to defective NEMO ubiquitination. Blood. 2006;108:2324\u201331.","journal-title":"Blood"},{"key":"9998_CR7","doi-asserted-by":"crossref","first-page":"1745","DOI":"10.1084\/jem.20060085","volume":"203","author":"O Filipe-Santos","year":"2006","unstructured":"Filipe-Santos O, Bustamante J, Haverkamp MH, Vinolo E, Ku CL, Puel A, et al. X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production. J Exp Med. 2006;203:1745\u201359.","journal-title":"J Exp Med"},{"key":"9998_CR8","doi-asserted-by":"crossref","first-page":"1485","DOI":"10.1084\/jem.188.8.1485","volume":"188","author":"D Xu","year":"1998","unstructured":"Xu D, Chan WL, Leung BP, Hunter D, Schulz K, Carter RW, et al. Selective expression and functions of interleukin-18 receptor on T-helper (Th) type 1 but not Th2 cells. J Exp Med. 1998;188:1485\u201392.","journal-title":"J Exp Med"},{"key":"9998_CR9","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, 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. 2000;67:1555\u201362.","journal-title":"Am J Hum Genet"},{"key":"9998_CR10","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, et al. A hypermorphic I\u03baB\u03b1 mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. J Clin Invest. 2003;112:1108\u201315.","journal-title":"J Clin Invest"},{"key":"9998_CR11","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1111\/j.1365-4362.1991.tb04869.x","volume":"30","author":"ST Nedorost","year":"1991","unstructured":"Nedorost ST, Elewski B, Tomford JW, Camisa C. Rosacea-like lesions due to familial Mycobacterium avium-intracellulare infection. Int J Dermatol. 1991;30:491\u20137.","journal-title":"Int J Dermatol"},{"key":"9998_CR12","doi-asserted-by":"crossref","first-page":"1348","DOI":"10.1056\/NEJM199405123301904","volume":"330","author":"SM Holland","year":"1994","unstructured":"Holland SM, Eisenstein EM, Kuhns DB, Turner ML, Fleisher TA, Strober W, et al. Treatment of refractory disseminated nontuberculous mycobacterial infection with interferon gamma. N Engl J Med. 1994;330:1348\u201355.","journal-title":"N Engl J Med"},{"key":"9998_CR13","doi-asserted-by":"crossref","first-page":"411","DOI":"10.4049\/jimmunol.157.1.411","volume":"157","author":"DM Frucht","year":"1996","unstructured":"Frucht DM, Holland SM. Defective monocyte costimulation for IFN-\u03b3 production in familial disseminated Mycobacterium avium complex infection. J Immunol. 1996;157:411\u20136.","journal-title":"J Immunol"},{"key":"9998_CR14","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1006\/clim.1999.4688","volume":"91","author":"DM Frucht","year":"1999","unstructured":"Frucht DM, Sandberg DI, Brown MR, Gerstberger SM, Holland SM. IL-12-independent costimulation pathways for interferon-\u03b3 production in familial disseminated Mycobacterium avium complex infection. Clin Immunol. 1999;91:234\u201341.","journal-title":"Clin Immunol"},{"key":"9998_CR15","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1046\/j.1365-2133.2003.05543.x","volume":"149","author":"E Tobin","year":"2003","unstructured":"Tobin E, Rohwedder A, Holland SM, Philips B, Carlson JA. Recurrent \u2018sterile\u2019 verrucous cyst abscesses and epidermodysplasia verruciformis-like eruption associated with idiopathic CD4 lymphopenia. Br J Dermatol. 2003;149:627\u201333.","journal-title":"Br J Dermatol"},{"key":"9998_CR16","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1038\/85837","volume":"27","author":"R Doffinger","year":"2001","unstructured":"Doffinger R, Smahi A, Bessia C, Geissmann F, Feinberg J, Durandy A, et al. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-\u03baB signaling. Nat Genet. 2001;27:277\u201385.","journal-title":"Nat Genet"},{"key":"9998_CR17","doi-asserted-by":"crossref","first-page":"2541","DOI":"10.1242\/dev.129.10.2541","volume":"129","author":"J Laurikkala","year":"2002","unstructured":"Laurikkala J, Pispa J, Jung HS, Mikkola M, Wang X, Saarialho-Kere U, et al. Regulation of hair follicle development by the TNF signal ectodysplasin and its receptor Edar. Development. 2002;129:2541\u201353.","journal-title":"Development"},{"key":"9998_CR18","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, et al. Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia. J Allergy Clin Immunol. 2004;114:1456\u201362.","journal-title":"J Allergy Clin Immunol"},{"key":"9998_CR19","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, et al. Human nuclear factor kappaB essential modulator mutation can result in immunodeficiency without ectodermal dysplasia. J Allergy Clin Immunol. 2004;114:650\u20136.","journal-title":"J Allergy Clin Immunol"},{"key":"9998_CR20","doi-asserted-by":"crossref","first-page":"e615","DOI":"10.1542\/peds.2004-1754","volume":"115","author":"CL Ku","year":"2005","unstructured":"Ku CL, Dupuis-Girod S, Dittrich AM, Bustamante J, Santos OF, Schulze I, et al. NEMO mutations in two unrelated boys with severe infections and conical teeth. Pediatrics. 2005;115:e615\u20139.","journal-title":"Pediatrics"},{"key":"9998_CR21","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1086\/501532","volume":"78","author":"A Puel","year":"2006","unstructured":"Puel A, Reichenbach J, Bustamante J, Ku CL, Feinberg J, Doffinger R, et al. The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation. Am J Hum Genet. 2006;78:691\u2013701.","journal-title":"Am J Hum Genet"},{"key":"9998_CR22","doi-asserted-by":"crossref","first-page":"976","DOI":"10.1016\/j.jaci.2007.11.014","volume":"121","author":"BH Salt","year":"2008","unstructured":"Salt BH, Niemela JE, Pandey R, Hanson EP, Deering RP, Quinones R, et al. IKBKG (nuclear factor-\u03baB essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function. J Allergy Clin Immunol. 2008;121:976\u201382.","journal-title":"J Allergy Clin Immunol"},{"issue":"1","key":"9998_CR23","doi-asserted-by":"crossref","first-page":"127.e7","DOI":"10.1016\/j.jaci.2010.04.026","volume":"126","author":"JL Mooster","year":"2010","unstructured":"Mooster JL, Cancrini C, Simonetti A, Rossi P, Di Matteo G, Romiti ML, et al. Immune deficiency caused by impaired expression of nuclear factor-\u03baB essential modifier (NEMO) because of a mutation in the 5\u2019untranslated region of the NEMO gene. J Allergy Clin Immunol. 2010;126(1):127.e7\u201332.e7.","journal-title":"J Allergy Clin Immunol"},{"key":"9998_CR24","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1007\/s10875-011-9568-9","volume":"31","author":"M Imamura","year":"2011","unstructured":"Imamura M, Kawai T, Okada S, Izawa K, Takachi T, Iwabuchi H, et al. Disseminated BCG infection mimicking metastatic nasopharyngeal carcinoma in an immunodeficient child with a novel hypomorphic NEMO mutation. J Clin Immunol. 2011;31:802\u201310.","journal-title":"J Clin Immunol"},{"key":"9998_CR25","doi-asserted-by":"crossref","first-page":"61","DOI":"10.3389\/fimmu.2011.00061","volume":"2","author":"MD Keller","year":"2011","unstructured":"Keller MD, Petersen M, Ong P, Church J, Risma K, Burham J, et al. Hypohidrotic Ectodermal Dysplasia and immunodeficiency with coincident NEMO and EDA mutations. Front Immunol. 2011;2:61.","journal-title":"Front Immunol"},{"key":"9998_CR26","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1016\/j.jaci.2004.01.762","volume":"113","author":"JS Orange","year":"2004","unstructured":"Orange JS, Jain A, Ballas ZK, Schneider LC, Geha RS, Bonilla FA. The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation. J Allergy Clin Immunol. 2004;113:725\u201333.","journal-title":"J Allergy Clin Immunol"},{"key":"9998_CR27","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, Nakate-Hizume M, Ohmori K, Mizuno K, et al. X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaiscism of NEMO reveals a critical role for NEMO in human T-cell development and\/or survival. Blood. 2004;103:4565\u201372.","journal-title":"Blood"},{"key":"9998_CR28","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1128\/CVI.00355-07","volume":"15","author":"M Mizusawa","year":"2008","unstructured":"Mizusawa M, Kawamura M, Takamori M, Kashiyama T, Fujita A, Usuzawa M, et al. Increased synthesis of anti-tuberculous glycolipid immunoglobulin G (IgG) and IgA with cavity formation in patients with pulmonary tuberculosis. Clin Vaccine Immunol. 2008;15:544\u20138.","journal-title":"Clin Vaccine Immunol"},{"key":"9998_CR29","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1016\/j.molcel.2009.01.012","volume":"33","author":"Y Lo","year":"2009","unstructured":"Lo Y, Lin S, Rospigliosi CC, Conze DB, Wu C, Ashwell JD, et al. Structural basis for recognition of diubiquitins by NEMO. Mol Cell. 2009;33:602\u201315.","journal-title":"Mol Cell"}],"container-title":["Journal of Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-014-9998-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10875-014-9998-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-014-9998-2","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,7,10]],"date-time":"2023-07-10T20:31:44Z","timestamp":1689021104000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10875-014-9998-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,2,28]]},"references-count":29,"alternative-id":["9998"],"URL":"https:\/\/doi.org\/10.1007\/s10875-014-9998-2","relation":{},"ISSN":["0271-9142","1573-2592"],"issn-type":[{"value":"0271-9142","type":"print"},{"value":"1573-2592","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,2,28]]}}}