title: Immunological characteristics and two novel mutations in TACI in a cohort of 28 pediatric patients with common variable immunodeficiency.
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.
authors.affiliation: Servicio de Immunología y Reumatología, Hospital Nacional de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.
authors.forename: María B
authors.initials: MB
authors.lastname: Almejún
authors.forename: Elisa
authors.initials: E
authors.lastname: Sajaroff
authors.forename: Miguel
authors.initials: M
authors.lastname: Galicchio
authors.forename: Matías
authors.initials: M
authors.lastname: Oleastro
authors.forename: Andrea
authors.initials: A
authors.lastname: Bernasconi
authors.forename: Marta
authors.initials: M
authors.lastname: Zelazko
authors.forename: Silvia
authors.initials: S
authors.lastname: Danielian
mesh_terms: D000293:Adolescent; D019943:Amino Acid Substitution; D001402:B-Lymphocytes / Q000276:immunology / Q000378:metabolism; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D017074:Common Variable Immunodeficiency / Q000235:genetics* / Q000276:immunology*; D005260:Female; D023061:Gene Order; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D012333:RNA, Messenger / Q000378:metabolism; D053303:Transmembrane Activator and CAML Interactor Protein / Q000235:genetics*
chemical_list: D012333:RNA, Messenger; D053303:Transmembrane Activator and CAML Interactor Protein
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