{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T20:23:17Z","timestamp":1791145397324,"version":"4.1.0"},"reference-count":13,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2007,1,18]],"date-time":"2007-01-18T00:00:00Z","timestamp":1169078400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Immunology"],"published-print":{"date-parts":[[2007,4]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Hyper\u2010immunoglobulin M (IgM) syndrome (HIGM) is a rare primary immunodeficiency characterized by elevated or normal IgM and absent or markedly decreased amounts of IgG, IgA and IgE. The X\u2010linked form (HIGM1) is the most common type and is caused by mutations in the gene for CD40L, a T\u2010cell surface molecule required for T\u2010cell driven immunoglobulin class switching by B cells. In the present study we have identified a patient with X\u2010linked hyper\u2010IgM who failed to express CD40L on the cell surface of CD4<jats:sup>+<\/jats:sup> T lymphocytes. Sequence analysis of CD40L genomic DNA showed no mutations. CD40L mRNA was absent and sequence analysis of the CD40L promotor revealed a mutation at position \u2212123 from the transcription start site. The mutation in the promotor region likely contributed to the decreased transcription as demonstrated by a luciferase reporter assay.<\/jats:p>","DOI":"10.1111\/j.1365-2567.2006.02520.x","type":"journal-article","created":{"date-parts":[[2007,3,6]],"date-time":"2007-03-06T08:26:29Z","timestamp":1173169589000},"page":"497-501","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Hyper\u2010immunoglobulin M syndrome caused by a mutation in the promotor for CD40L"],"prefix":"10.1111","volume":"120","author":[{"given":"Erna","family":"Van Hoeyveld","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ping\u2010Xia","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kris","family":"De Boeck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramsay","family":"Fuleihan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xavier","family":"Bossuyt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,1,18]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.90.6.2170"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90668-G"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.7679801"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/361541a0"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/361539a0"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1097\/01.md.0000100046.06009.b0"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(97)70123-9"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0167-5699(96)80904-2"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/0167-4781(94)00179-7"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.2000.3914"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00251-003-0602-9"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.gene.6363877"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.270.50.29624"}],"container-title":["Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1365-2567.2006.02520.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1365-2567.2006.02520.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,13]],"date-time":"2023-10-13T16:37:56Z","timestamp":1697215076000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1365-2567.2006.02520.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,1,18]]},"references-count":13,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2007,4]]}},"alternative-id":["10.1111\/j.1365-2567.2006.02520.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1365-2567.2006.02520.x","archive":["Portico"],"relation":{},"ISSN":["0019-2805","1365-2567"],"issn-type":[{"value":"0019-2805","type":"print"},{"value":"1365-2567","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,1,18]]},"assertion":[{"value":"2007-01-18","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}