{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T21:51:52Z","timestamp":1782251512074,"version":"3.54.5"},"reference-count":9,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2006,1,1]],"date-time":"2006-01-01T00:00:00Z","timestamp":1136073600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2006,1,1]],"date-time":"2006-01-01T00:00:00Z","timestamp":1136073600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Int Arch Allergy Immunol"],"published-print":{"date-parts":[[2006]]},"abstract":"<i>Background:<\/i> X-linked agammaglobulinemia (XLA) is a hereditary immunodeficiency characterized by an early onset of recurrent bacterial infections, a profound deficiency of all immunoglobulin isotypes and a markedly reduced number of peripheral B lymphocytes. Eighty-five percent of the patients with this phenotype have mutations in Bruton\u2019s tyrosine kinase (BTK) gene. <i>Methods:<\/i> To provide an informative outlook of clinical and immunological manifestations of XLA in Iran, 37 Iranian male patients with an age range of 1\u201334 years, followed over a period of 25 years, were studied. Twenty-four of the 37 patients were screened for <i>BTK<\/i> gene mutation using PCR-SSCP followed by direct sequencing. BTK protein expression assay was done by flow cytometry in 9 families. <i>Results:<\/i> All patients first presented with infectious diseases, the most common of which were respiratory tract infections. Eighteen different mutations were identified, 13 of which were novel: IVS1+5G>C, 1896G>A, 349delA, 1618C>T, 1783T>C, 2084A>G, 1346delT, 1351delGAG, 587A>G, IVS14\u20131G>A, IVS3+2T>C, 1482G>A, 1975C>A. <i>Conclusion:<\/i> The fact that we found a great number of novel mutations in a relatively limited number of patients underlines the heterogeneity of <i>BTK<\/i> mutations in the Iranian population. The large number of new mutations indicates that extended studies in this region would be rewarding.<\/jats:p>","DOI":"10.1159\/000095469","type":"journal-article","created":{"date-parts":[[2006,8,30]],"date-time":"2006-08-30T12:34:34Z","timestamp":1156941274000},"page":"408-414","source":"Crossref","is-referenced-by-count":44,"title":["Clinical, Immunological and Molecular Characteristics of 37 Iranian Patients with X-Linked Agammaglobulinemia"],"prefix":"10.1159","volume":"141","author":[{"given":"Asghar","family":"Aghamohammadi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurilia","family":"Fiorini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mostafa","family":"Moin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nima","family":"Parvaneh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shahram","family":"Teimourian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehdi","family":"Yeganeh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Goffi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirokazu","family":"Kanegane","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali Akbar","family":"Amirzargar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zahra","family":"Pourpak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nima","family":"Rezaei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali","family":"Salavati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nima","family":"Pouladi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sina","family":"Abdollahzade","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigi D.","family":"Notarangelo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshio","family":"Miyawaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Plebani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2006,11,15]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038%2F361226a0"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016%2F0092-8674%2893%2990667-F"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.0105-2896.2005.00225.x"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1093%2Fnar%2F16.3.1215"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016%2FS0928-8244%2803%2900304-3"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1006%2Fclim.2002.5241"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1136%2Fjcp.2004.016204"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.0105-2896.2005.00233.x"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1067%2Fmai.2001.120133"}],"container-title":["International Archives of Allergy and Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/95469","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/95469","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T02:41:46Z","timestamp":1745462506000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000095469"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006]]},"references-count":9,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2006,11,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000095469","archive":["Portico"],"relation":{},"ISSN":["1018-2438","1423-0097"],"issn-type":[{"value":"1018-2438","type":"print"},{"value":"1423-0097","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006]]}}}