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Article

Allele *1 of HS1.2 enhancer associates with selective IgA deficiency and IgM concentration.

Journal of immunology (Baltimore, Md. : 1950) - 15 Dec 2009

Giambra Vincenzo, Cianci Rossella, Lolli Serena, Mattioli Claudia, Tampella Giacomo, Cattalini Marco, Kilic Sebnem S, Pandolfi Franco, Plebani Alessandro, Frezza Domenico

Abstract excerpt

Selective IgA deficiency (IGAD) is the most common primary immunodeficiency, yet its pathogenesis is elusive. The IG (heavy) H chain human 3' Regulatory Region harbors three enhancers and has an important role in Ig synthesis. HS1.2 is the only polymorphic enhancer of the 3' RRs. We therefore evaluated HS1.2 allelic frequencies in 88 IGAD patients and 101 controls. Our data show that IGAD patients have a highly...

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Share to 3' Flanking Region
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 20007591
DOI: 10.4049/jimmunol.0902426

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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