{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T11:41:48Z","timestamp":1778758908290,"version":"3.51.4"},"reference-count":36,"publisher":"Oxford University Press (OUP)","issue":"12","license":[{"start":{"date-parts":[[2009,12,1]],"date-time":"2009-12-01T00:00:00Z","timestamp":1259625600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2009,12,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Selective IgA deficiency (IGAD) is the most common primary immunodeficiency, yet its pathogenesis is elusive. The IG (heavy) H chain human 3\u2032 Regulatory Region harbors three enhancers and has an important role in Ig synthesis. HS1.2 is the only polymorphic enhancer of the 3\u2032RRs. We therefore evaluated HS1.2 allelic frequencies in 88 IGAD patients and 101 controls. Our data show that IGAD patients have a highly significant increase of homozygousity of the allele *1 (39% in the IGAD patients and 15% in controls), with an increase of 2.6-fold. Allele *4 has a similar trend of allele *2, both showing a significant decrease of frequency in IGAD. No relationship was observed between allele *1 frequencies and serum levels of IgG. However, allele *1 was associated in IGAD patients with relatively low IgM levels (within the 30th lowest percentile of patients). The HS1.2 polymorphism influences Ig seric production, but not IgG switch, in fact 30th lowest or highest percentile of IgG in patients did not associate to different frequencies of HS1.2 alleles. The control on normal healthy subjects did not correlate high or low levels of IgM or IgG with HS1.2 allelic frequence variation. Overall our candidate gene approach confirms that the study of polymorphisms in human diseases is a valid tool to investigate the function of these Regulatory Regions that confers multiple immune features.<\/jats:p>","DOI":"10.4049\/jimmunol.0902426","type":"journal-article","created":{"date-parts":[[2009,12,9]],"date-time":"2009-12-09T21:00:25Z","timestamp":1260392425000},"page":"8280-8285","source":"Crossref","is-referenced-by-count":20,"title":["Allele *1 of HS1.2 Enhancer Associates with Selective IgA Deficiency and IgM Concentration"],"prefix":"10.1093","volume":"183","author":[{"given":"Vincenzo","family":"Giambra","sequence":"first","affiliation":[{"name":"Terry Fox Laboratory, British Columbia Cancer Research Centre , Vancouver, BC,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rossella","family":"Cianci","sequence":"additional","affiliation":[{"name":"Institute of Internal Medicine, Catholic University , Rome,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serena","family":"Lolli","sequence":"additional","affiliation":[{"name":"Institute of Internal Medicine, Catholic University , Rome,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"Mattioli","sequence":"additional","affiliation":[{"name":"Department of Biology \u201cEnrico Calef\u201d, University of Roma Tor Vergata ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giacomo","family":"Tampella","sequence":"additional","affiliation":[{"name":"Pediatric Clinic, University of Brescia ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Cattalini","sequence":"additional","affiliation":[{"name":"Pediatric Clinic, University of Brescia ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sebnem S","family":"Kilic","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University School of Medicine , Bursa,","place":["Turkey"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Franco","family":"Pandolfi","sequence":"additional","affiliation":[{"name":"Institute of Internal Medicine, Catholic University , Rome,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Plebani","sequence":"additional","affiliation":[{"name":"Pediatric Clinic, University of Brescia ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Domenico","family":"Frezza","sequence":"additional","affiliation":[{"name":"Department of Biology \u201cEnrico Calef\u201d, University of Roma Tor Vergata ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2009,12,15]]},"reference":[{"key":"2026012811223746000_R1","first-page":"1096","article-title":"Genetic linkage of IgA deficiency to the major histocompatibility complex: evidence for allele segregation distortion, parent-of-origin penetrance differences, and the role of anti-IgA antibodies in disease predisposition.","volume-title":"Am. 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Lett.","year":"2004"},{"key":"2026012811223746000_R26","first-page":"105","article-title":"Evolution of human IgH3\u2032EC duplicated structures: both enhancers HS1,2 are polymorphic with variation of transcription factor\u2019s consensus sites.","volume-title":"Gene","year":"2005"},{"key":"2026012811223746000_R27","first-page":"115","article-title":"Allelic frequencies of 3\u2032 Ig heavy chain locus enhancer HS1,2-A associated with Ig levels in patients with schizophrenia.","volume-title":"Int. J. Immunopathol. Pharmacol.","year":"2009"},{"key":"2026012811223746000_R28","first-page":"35","article-title":"Polymorphism of the human \u03b11 immunoglobulin gene 3\u2032 enhancer hs1,2 and its relation to gene expression.","volume-title":"Immunology","year":"2001"},{"key":"2026012811223746000_R29","first-page":"946","article-title":"Immunoglobulin enhancer HS1,2 polymorphism: a new powerful anthropogenetic marker.","volume-title":"Ann. Hum. 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