Journal
JOURNAL OF CLINICAL IMMUNOLOGY
Volume 32, Issue 1, Pages 89-97Publisher
SPRINGER/PLENUM PUBLISHERS
DOI: 10.1007/s10875-011-9613-8
Keywords
Common variable immunodeficiency; TACI; mutations; pediatric; immunoglobulin
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Funding
- Agencia Nacional de Promocion Cientifica y Tecnologica [21235]
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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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