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Article

Clinical Associations of Biallelic and Monoallelic TNFRSF13B Variants in Italian Primary Antibody Deficiency Syndromes.

Journal of immunology research - 1 Jan 2016

Pulvirenti Federica, Zuntini Roberta, Milito Cinzia, Specchia Fernando, Spadaro Giuseppe, Danieli Maria Giovanna, Pession Andrea, Quinti Isabella, Ferrari Simona

Abstract excerpt

We assessed the prevalence of TNFRSF13B mutations and the clinical correlates in an Italian cohort of 189 CVID, 67 IgAD patients, and 330 healthy controls to substantiate the role of TACI genetic testing in diagnostic workup. We found that 11% of CVID and 13% of IgAD carried at least one mutated TNFRSF13B allele. Seven per cent of CVID had monoallelic-mutations and 4% had biallelic-mutations. The frequency of...

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Identifiers

PMID: 27123465
DOI: 10.1155/2016/8390356
PMCID: PMC4829724

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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