Immunological Characteristics and Two Novel Mutations in TACI in a Cohort of 28 Pediatric Patients with Common Variable Immunodeficiency
| Autor: | Andrea Bernasconi, María Belén Almejún, Matías Oleastro, E.O. Sajaroff, Marta Zelazko, Miguel Galicchio, Silvia Danielian |
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| Rok vydání: | 2011 |
| Předmět: |
Male
medicine.medical_specialty Adolescent Transmembrane Activator and CAML Interactor Protein Immunology medicine.disease_cause Cohort Studies Medical microbiology Gene Order medicine Humans Immunology and Allergy RNA Messenger Child Gene Genetics B-Lymphocytes Mutation Base Sequence biology Common variable immunodeficiency medicine.disease Pedigree Common Variable Immunodeficiency Amino Acid Substitution Immunoglobulin class switching Child Preschool Cohort biology.protein Female Antibody Cohort study |
| Zdroj: | Journal of Clinical Immunology. 32:89-97 |
| ISSN: | 1573-2592 0271-9142 |
| DOI: | 10.1007/s10875-011-9613-8 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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