{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T17:27:58Z","timestamp":1789752478222,"version":"4.0.1"},"reference-count":21,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2021,8,16]],"date-time":"2021-08-16T00:00:00Z","timestamp":1629072000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medicina"],"abstract":"<jats:p>Background and objectives: Monoallelic (heterozygous) or biallelic (homozygous or compound heterozygous) TACI mutations have been reported as the most common genetic defects in patients with common variable immunodeficiency (CVID), which is the most common clinically significant primary immunodeficiency in humans. The aim of our study was to evaluate the prevalence and any correlations of TACI defects in Greek patients with primary antibody deficiencies. Materials and Methods: 117 patients (male\/female: 53\/64) with CVID (110) and a combined IgA and IgG subclass deficiency (7) with a CVID-like clinical phenotype were enrolled in the study. Genomic DNA was extracted from peripheral blood and the molecular analysis of the TACI gene was performed by PCR (Polymerase Chain Reaction) and sequencing of all 5 exons, including exon\u2013intron boundaries. Results: Seventeen patients (14.5%) displayed TACI defects, four (23.5%) carried combined heterozygous mutations and 13 (76.5%) carried single heterozygous mutations. The most frequently detected mutation was C104R (58.8%), followed by I87N (23.5%) and A181E (11.8%), while R20C, C62Y, P151L, K188M and E236X mutations were present in only one patient each. Patients with TACI defects were more frequently male (p = 0.011) and displayed a benign lymphoproliferation (splenomegaly and lymph node enlargement, p = 0.047 and p = 0.002, respectively), had a history of tonsillectomy (p = 0.015) and adenoidectomy (p = 0.031) and more frequently exhibited autoimmune cytopenias (p = 0.046). Conclusions: Considering that accumulating evidence suggests several CVID patients have a complex rather than a monogenic inheritance, our data further support the notion that TACI mutations, particularly as monoallelic defects, should be primarily considered as susceptibility co-factors and\/or modifiers of primary antibody deficiencies.<\/jats:p>","DOI":"10.3390\/medicina57080827","type":"journal-article","created":{"date-parts":[[2021,8,16]],"date-time":"2021-08-16T21:27:45Z","timestamp":1629149265000},"page":"827","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["TACI Mutations in Primary Antibody Deficiencies: A Nationwide Study in Greece"],"prefix":"10.3390","volume":"57","author":[{"given":"Ioannis","family":"Kakkas","sequence":"first","affiliation":[{"name":"Immunology and Histocompatibility Department, \u201cEvaggelismos\u201d General Hospital, 106 76 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerasimina","family":"Tsinti","sequence":"additional","affiliation":[{"name":"Department of Immunology & Histocompatibility, Faculty of Medicine, University of Thessaly, 415 00 Larissa, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fani","family":"Kalala","sequence":"additional","affiliation":[{"name":"Hematology Department, Henry Dunant Hospital, 115 26 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5132-8255","authenticated-orcid":false,"given":"Evangelia","family":"Farmaki","sequence":"additional","affiliation":[{"name":"Pediatric Immunology and Rheumatology Referral Center, First Department of Pediatrics, Aristotle University of Thessaloniki, 541 24 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Kourakli","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Hematology Division, Medical School\u2014University Hospital, University of Patras, 265 04 Patras, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Androniki","family":"Kapousouzi","sequence":"additional","affiliation":[{"name":"Department of Immunology & Histocompatibility, Faculty of Medicine, University of Thessaly, 415 00 Larissa, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8197-9895","authenticated-orcid":false,"given":"Maria","family":"Dimou","sequence":"additional","affiliation":[{"name":"Hematology Section, First Department of Propedeutic Internal Medicine, \u201cLaikon\u201d General Hospital, National and Kapodistrian University of Athens, 157 72 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vassiliki","family":"Kalaitzidou","sequence":"additional","affiliation":[{"name":"Department of Hematology, Papageorgiou General Hospital, 564 29 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eirini","family":"Sevdali","sequence":"additional","affiliation":[{"name":"Department of Immunology & Histocompatibility, Faculty of Medicine, University of Thessaly, 415 00 Larissa, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Athanasia-Marina","family":"Peristeri","sequence":"additional","affiliation":[{"name":"Department of Immunology & Histocompatibility, Faculty of Medicine, University of Thessaly, 415 00 Larissa, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgia","family":"Tsiouma","sequence":"additional","affiliation":[{"name":"ENT Department, \u201cAchillopoulion\u201d General Hospital of Volos, 382 21 Volos, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peristera","family":"Patiou","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Hematology Division, Medical School\u2014University Hospital, University of Patras, 265 04 Patras, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleni","family":"Papadimitriou","sequence":"additional","affiliation":[{"name":"Pediatric Immunology and Rheumatology Referral Center, First Department of Pediatrics, Aristotle University of Thessaloniki, 541 24 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8766-1853","authenticated-orcid":false,"given":"Theodoros P.","family":"Vassilakopoulos","sequence":"additional","affiliation":[{"name":"Department of Haematology and Bone Marrow Transplantation, \u201cLaikon\u201d General Hospital, National and Kapodistrian University of Athens, 157 72 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Panayiotis","family":"Panayiotidis","sequence":"additional","affiliation":[{"name":"Hematology Section, First Department of Propedeutic Internal Medicine, \u201cLaikon\u201d General Hospital, National and Kapodistrian University of Athens, 157 72 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Kioumi","sequence":"additional","affiliation":[{"name":"Department of Hematology, Papageorgiou General Hospital, 564 29 Thessaloniki, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3685-3473","authenticated-orcid":false,"given":"Argiris","family":"Symeonidis","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Hematology Division, Medical School\u2014University Hospital, University of Patras, 265 04 Patras, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1287-7734","authenticated-orcid":false,"given":"Matthaios","family":"Speletas","sequence":"additional","affiliation":[{"name":"Department of Immunology & Histocompatibility, Faculty of Medicine, University of Thessaly, 415 00 Larissa, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,8,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1007\/978-981-15-3532-1_10","article-title":"Primary antibody deficiencies","volume":"Volume 1254","author":"Min","year":"2020","journal-title":"Advances in Experimental Medicine and Biology"},{"key":"ref_2","unstructured":"Pescador Ruschel, M.A., and Vaqar, S. 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