{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T11:25:54Z","timestamp":1791199554856,"version":"4.2.0"},"reference-count":37,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2007,2]]},"abstract":"<jats:p>\n                  <jats:bold>Background:<\/jats:bold> Mendelian susceptibility to mycobacterial disease (MSMD) is associated with infection caused by weakly virulent mycobacteria in otherwise healthy people. Causal germline mutations in five autosomal genes (<jats:italic>IFNGR1, IFNGR2, STAT1, IL12RB1, IL12B<\/jats:italic>) and one X-linked (<jats:italic>NEMO<\/jats:italic>) gene have been described. The gene products are physiologically related, as they are involved in interleukin 12\/23-dependent, interferon \u03b3-mediated immunity. However, no genetic aetiology has yet been identified for about half the patients with MSMD.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Methods:<\/jats:bold> A large kindred was studied, including four male maternal relatives with recurrent mycobacterial disease, suggesting X-linked recessive inheritance. Three patients had recurrent disease caused by the bacille Calmette\u2013Gu\u00e9rin vaccine, and the fourth had recurrent tuberculosis. The infections showed tropism for the peripheral lymph nodes.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Results:<\/jats:bold> Known autosomal and X-linked genetic aetiologies of MSMD were excluded through genetic and immunological investigations. Genetic linkage analysis of the X-chromosome identified two candidate regions, on Xp11.4\u2013Xp21.2 and Xq25\u2013Xq26.3, with a maximum LOD score of 2.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Conclusion:<\/jats:bold> A new X-linked recessive form of MSMD is reported, paving the way for the identification of a new MSMD-causing gene.<\/jats:p>","DOI":"10.1136\/jmg.2006.043406","type":"journal-article","created":{"date-parts":[[2007,2,9]],"date-time":"2007-02-09T13:23:09Z","timestamp":1171027389000},"page":"e65-e65","source":"Crossref","is-referenced-by-count":50,"title":["A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease"],"prefix":"10.1136","volume":"44","author":[{"given":"Jacinta","family":"Bustamante","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Capucine","family":"Picard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Fieschi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orchid\u00e9e","family":"Filipe-Santos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacqueline","family":"Feinberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Perronne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ariane","family":"Chapgier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludovic","family":"de Beaucoudrey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillaume","family":"Vogt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damien","family":"Sanlaville","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnaud","family":"Lemainque","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Fran\u00e7ois","family":"Emile","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurent","family":"Abel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Laurent","family":"Casanova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2007,2,9]]},"reference":[{"key":"2025101800061627000_44.2.e65.1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gki033"},{"key":"2025101800061627000_44.2.e65.2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.immunol.20.081501.125851"},{"key":"2025101800061627000_44.2.e65.3","first-page":"581","volume":"346","year":"1995","journal-title":"Lancet"},{"key":"2025101800061627000_44.2.e65.4","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1542\/peds.98.4.774","volume":"98","year":"1996","journal-title":"Pediatrics"},{"key":"2025101800061627000_44.2.e65.5","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(95)90059-4"},{"key":"2025101800061627000_44.2.e65.6","doi-asserted-by":"publisher","DOI":"10.1172\/JCI119810"},{"key":"2025101800061627000_44.2.e65.7","doi-asserted-by":"publisher","DOI":"10.1086\/321999"},{"key":"2025101800061627000_44.2.e65.8","doi-asserted-by":"publisher","DOI":"10.1086\/338625"},{"key":"2025101800061627000_44.2.e65.9","doi-asserted-by":"publisher","DOI":"10.1086\/375587"},{"key":"2025101800061627000_44.2.e65.10","doi-asserted-by":"publisher","DOI":"10.1086\/427879"},{"key":"2025101800061627000_44.2.e65.11","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20052302"},{"key":"2025101800061627000_44.2.e65.12","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-9896(199701)181:1<25::AID-PATH747>3.0.CO;2-Z"},{"key":"2025101800061627000_44.2.e65.13","doi-asserted-by":"crossref","first-page":"411","DOI":"10.4049\/jimmunol.157.1.411","volume":"157","year":"1996","journal-title":"J Immunol"},{"key":"2025101800061627000_44.2.e65.14","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20060085"},{"key":"2025101800061627000_44.2.e65.15","doi-asserted-by":"publisher","DOI":"10.1016\/S1359-6101(00)00010-1"},{"key":"2025101800061627000_44.2.e65.16","doi-asserted-by":"publisher","DOI":"10.1111\/j.0105-2896.2005.00227.x"},{"key":"2025101800061627000_44.2.e65.17","doi-asserted-by":"publisher","DOI":"10.1038\/ng1581"},{"key":"2025101800061627000_44.2.e65.18","doi-asserted-by":"crossref","unstructured":"Chapgier A, Boisson-Dupuis S, Jouanguy E, Vogt G, Feinberg J, Prochnicka-Chalufour A, Casrouge A, Yang K, Soudais C, Fieschi C, Filipe Santos O, Bustamante J, Picard C, de Beaucoudrey L, Emile J F, Arkwright P, Schreiber R D, Rolinck-Werninghaus C, R\u00f6sen-Wolff A, Magdorf K, Roesler J, Casanova J L. Dominant and recessive phenotypes conferred by STAT1 alleles. PloS Genet. 2006;2:e131.","DOI":"10.1371\/journal.pgen.0020131"},{"key":"2025101800061627000_44.2.e65.19","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.173.6.4000"},{"key":"2025101800061627000_44.2.e65.20","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199405123301904"},{"key":"2025101800061627000_44.2.e65.21","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1111\/j.1365-4362.1991.tb04869.x","volume":"30","year":"1991","journal-title":"Int J Dermatol"},{"key":"2025101800061627000_44.2.e65.22","doi-asserted-by":"publisher","DOI":"10.1086\/316914"},{"key":"2025101800061627000_44.2.e65.23","doi-asserted-by":"publisher","DOI":"10.1038\/85837"},{"key":"2025101800061627000_44.2.e65.24","doi-asserted-by":"publisher","DOI":"10.1038\/85277"},{"key":"2025101800061627000_44.2.e65.25","doi-asserted-by":"publisher","DOI":"10.1016\/j.coi.2003.11.013"},{"key":"2025101800061627000_44.2.e65.26","doi-asserted-by":"publisher","DOI":"10.1111\/j.0105-2896.2005.00235.x"},{"key":"2025101800061627000_44.2.e65.27","doi-asserted-by":"publisher","DOI":"10.1002\/eji.200425221"},{"key":"2025101800061627000_44.2.e65.28","first-page":"1347","volume":"58","year":"1996","journal-title":"Am J Hum Genet"},{"key":"2025101800061627000_44.2.e65.29","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20021769"},{"key":"2025101800061627000_44.2.e65.30","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20050854"},{"key":"2025101800061627000_44.2.e65.31","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2005.03.053"},{"key":"2025101800061627000_44.2.e65.32","doi-asserted-by":"publisher","DOI":"10.1086\/303033"},{"key":"2025101800061627000_44.2.e65.33","doi-asserted-by":"publisher","DOI":"10.1086\/422534"},{"key":"2025101800061627000_44.2.e65.34","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1007\/s00439-002-0873-5","volume":"112","year":"2003","journal-title":"Hum Genet"},{"key":"2025101800061627000_44.2.e65.35","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20060269"},{"key":"2025101800061627000_44.2.e65.36","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.140201897"},{"key":"2025101800061627000_44.2.e65.37","doi-asserted-by":"publisher","DOI":"10.1038\/nature03440"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.2006.043406","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:06:23Z","timestamp":1760771183000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.2006.043406"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,2]]},"references-count":37,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2007,2,9]]},"published-print":{"date-parts":[[2007,2]]}},"alternative-id":["10.1136\/jmg.2006.043406"],"URL":"https:\/\/doi.org\/10.1136\/jmg.2006.043406","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,2]]}}}