Journal of Clinical Immunology

, Volume 32, Issue 1, pp 89–97

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

  • María B. Almejún
  • Elisa Sajaroff
  • Miguel Galicchio
  • Matías Oleastro
  • Andrea Bernasconi
  • Marta Zelazko
  • Silvia Danielian
Article

DOI: 10.1007/s10875-011-9613-8

Cite this article as:
Almejún, M.B., Sajaroff, E., Galicchio, M. et al. J Clin Immunol (2012) 32: 89. doi:10.1007/s10875-011-9613-8
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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.

Keywords

Common variable immunodeficiency TACI mutations pediatric immunoglobulin 

Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  • María B. Almejún
    • 1
  • Elisa Sajaroff
    • 1
  • Miguel Galicchio
    • 2
  • Matías Oleastro
    • 1
  • Andrea Bernasconi
    • 1
  • Marta Zelazko
    • 1
  • Silvia Danielian
    • 1
  1. 1.Servicio de Immunología y ReumatologíaHospital Nacional de Pediatría Prof. Dr. Juan P. GarrahanBuenos AiresArgentina
  2. 2.Hospital de Niños Víctor J. VilelaRosarioArgentina

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