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

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 TNF...

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Detalles Bibliográficos
Autores principales:	Pulvirenti, Federica, Zuntini, Roberta, Milito, Cinzia, Specchia, Fernando, Spadaro, Giuseppe, Danieli, Maria Giovanna, Pession, Andrea, Quinti, Isabella, Ferrari, Simona
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi Publishing Corporation 2016
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4829724/ https://www.ncbi.nlm.nih.gov/pubmed/27123465 http://dx.doi.org/10.1155/2016/8390356

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