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Article

Immunological characteristics and two novel mutations in TACI in a cohort of 28 pediatric patients with common variable immunodeficiency.

Journal of clinical immunology - 1 Feb 2012

Almejún María B, Sajaroff Elisa, Galicchio Miguel, Oleastro Matías, Bernasconi Andrea, Zelazko Marta, Danielian Silvia

Abstract excerpt

Common variable immunodeficiency (CVID) is a heterogeneous syndrome characterized by impaired immunoglobulin production. Mutations in the gene encoding TACI (TNFRSF13B) were previously found to be associated with CVID. Previous studies have identified a variety of sequence variants in TACI where A181E and C104R were the most common, with variable frequencies in different ethnic populations. So far, no mutations...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22076597
DOI: 10.1007/s10875-011-9613-8

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