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01.02.2012

Immunological Characteristics and Two Novel Mutations in TACI in a Cohort of 28 Pediatric Patients with Common Variable Immunodeficiency

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

Erschienen in: Journal of Clinical Immunology | Ausgabe 1/2012

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Abstract

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 were identified in the recently reported “TACI highly conserved” (THC) cytoplasmic domain, important for the induction of class switch recombination. Our study evaluated immunological and clinical data on a cohort of 28 Argentinean pediatric CVID patients and allowed the identification of two novel mutations in TNFRSF13B, including one, S231R, affecting the highly conserved THC domain. In contrast, none of the patients presented with A181E and C104R mutations.

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Titel: Immunological Characteristics and Two Novel Mutations in TACI in a Cohort of 28 Pediatric Patients with Common Variable Immunodeficiency
verfasst von: María B. Almejún
Elisa Sajaroff
Miguel Galicchio
Matías Oleastro
Andrea Bernasconi
Marta Zelazko
Silvia Danielian
Publikationsdatum: 01.02.2012
Verlag: Springer US
Erschienen in: Journal of Clinical Immunology / Ausgabe 1/2012
Print ISSN: 0271-9142
Elektronische ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-011-9613-8

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