{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T23:35:12Z","timestamp":1791329712329,"version":"4.3.1"},"reference-count":9,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"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":[[2012]]},"abstract":"<jats:p>IL-2-inducible T-cell kinase (ITK) deficiency is a rare inherited immunodeficiency disease characterized by homozygous mutations in the ITK gene and the inability to control Epstein-Barr virus (EBV) infection leading to EBV-associated lymphoproliferative disorders of B cell origin. Many aspects of its clinical presentation and immunologic phenotype are still unclear to clinicians. We report on a 14-year-old female patient with complaints of an 8-month history of cough and fever. Imaging studies revealed diffuse pulmonary nodules and mediastinal lymphadenopathy. Transbronchial lung biopsy showed nonmalignant polyclonal B cell proliferation. High titers of EBV DNA were detected by PCR analysis in bronchoalveolar lavage fluid, bone marrow, and blood. Genomic analysis revealed a homozygous single base pair deletion in exon 5 of the ITK gene (c.468delT) in this patient. Treatment with rituximab (anti-CD20 mab) resulted in complete clinical remission with resolution of pulmonary lesions and a negative EBV titer in serum. All patients with EBV-associated lymphoproliferative disorders should be analyzed for mutations in ITK.<\/jats:p>","DOI":"10.1159\/000333472","type":"journal-article","created":{"date-parts":[[2012,4,18]],"date-time":"2012-04-18T07:46:27Z","timestamp":1334735187000},"page":"418-422","source":"Crossref","is-referenced-by-count":72,"title":["IL-2-Inducible T-Cell Kinase Deficiency with Pulmonary Manifestations due to Disseminated Epstein-Barr Virus Infection"],"prefix":"10.1159","volume":"158","author":[{"given":"D.","family":"Mansouri","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.A.","family":"Mahdaviani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Khalilzadeh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.A.","family":"Mohajerani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Hasanzad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Sadr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.A.","family":"Nadji","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Karimi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Droodinia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Rezaei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.M.","family":"Linka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Bienemann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Borkhardt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.R.","family":"Masjedi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.A.","family":"Velayati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2012,4,5]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1128%2FMCB.01657-09"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1074%2Fjbc.M109.003129"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1600-065X.2008.00746.x"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1172%2FJCI37901"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.3324%2Fhaematol.2010.033910"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1182%2Fblood-2010-03-275909"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2141.2010.08442.x"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038%2Fnature05257"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.4103%2F1817-1737.78429"}],"container-title":["International Archives of Allergy and Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/333472","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/333472","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:39:52Z","timestamp":1745433592000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000333472"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012]]},"references-count":9,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2012,6,1]]},"published-print":{"date-parts":[[2012,6,28]]}},"URL":"https:\/\/doi.org\/10.1159\/000333472","archive":["Portico"],"relation":{},"ISSN":["1018-2438","1423-0097"],"issn-type":[{"value":"1018-2438","type":"print"},{"value":"1423-0097","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012]]}}}