{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T14:50:39Z","timestamp":1763563839467,"version":"3.37.3"},"reference-count":20,"publisher":"Wiley","license":[{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"funder":[{"name":"Research Committee of the University of Thessaly"},{"name":"Hellenic Thoracic Society"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical and Developmental Immunology"],"published-print":{"date-parts":[[2013]]},"abstract":"<jats:p><jats:italic>TNFRSF13B\/TACI<\/jats:italic>defects have been associated with CVID pathogenesis and\/or phenotype, especially the development of benign lymphoproliferation and autoimmunity. Our purpose was to investigate the role of<jats:italic>TNFRSF13B\/TACI<\/jats:italic>defects in the pathogenesis of two common lymphoproliferative disorders, namely, sarcoidosis and tonsillar hypertrophy (TH). 105 patients (71 with sarcoidosis and 34 with TH, including 19 without infectious causative and 15 due to<jats:italic>Haemophilus influenzae<\/jats:italic>) were analyzed for<jats:italic>TNFRSF13B\/TACI<\/jats:italic>defects. Two out of 19 TH patients without infectious cause (10.5%) and 2 patients with sarcoidosis (2.8%) displayed rare<jats:italic>TNFRSF13B\/TACI<\/jats:italic>defects (I87N, L69TfsX12, E36L, and R202H, resp.). Both mutations identified in TH patients have been assessed as deleterious for protein function, while the patient with the R202H mutation and sarcoidosis exhibited also sIgG4D. Our study further supports the notion that<jats:italic>TNFRSF13B\/TACI<\/jats:italic>defects alone do not result in CVID but may be also found frequently in distinct clinical phenotypes, including benign lymphoproliferation and IgG subclass deficiencies.<\/jats:p>","DOI":"10.1155\/2013\/532437","type":"journal-article","created":{"date-parts":[[2013,7,15]],"date-time":"2013-07-15T17:02:01Z","timestamp":1373907721000},"page":"1-5","source":"Crossref","is-referenced-by-count":9,"title":["Heterozygous Alterations of<i>TNFRSF13B\/TACI<\/i>in Tonsillar Hypertrophy and Sarcoidosis"],"prefix":"10.1155","volume":"2013","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1287-7734","authenticated-orcid":true,"given":"Matthaios","family":"Speletas","sequence":"first","affiliation":[{"name":"Department of Immunology and Histocompatibility, Faculty of Medicine, School of Health Sciences, University of Thessaly, Biopolis, 41110 Larissa, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1769-1157","authenticated-orcid":true,"given":"Ulrich","family":"Salzer","sequence":"additional","affiliation":[{"name":"Centre of Chronic Immunodeficiency (CCI), University Medical Center Freiburg and University of Freiburg, Hugstetterstrabe 55, 79106 Freiburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zoe","family":"Florou","sequence":"additional","affiliation":[{"name":"Department of Microbiology, Faculty of Medicine, School of Health Sciences, University of Thessaly, Biopolis, 41110 Larissa, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Efthimia","family":"Petinaki","sequence":"additional","affiliation":[{"name":"Department of Microbiology, Faculty of Medicine, School of Health Sciences, University of Thessaly, Biopolis, 41110 Larissa, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zoe","family":"Daniil","sequence":"additional","affiliation":[{"name":"Respiratory Department, University Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, Biopolis, 41110 Larissa, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fotini","family":"Bardaka","sequence":"additional","affiliation":[{"name":"Respiratory Department, University Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, Biopolis, 41110 Larissa, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Konstantinos I.","family":"Gourgoulianis","sequence":"additional","affiliation":[{"name":"Respiratory Department, University Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, Biopolis, 41110 Larissa, 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