Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes.

Journal article

TNFRSF13B encodes transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI), a B cell- specific tumor necrosis factor (TNF) receptor superfamily member. Both biallelic and monoallelic TNFRSF13B mutations were identified in patients with common variable immunodeficiency disorders. The genetic complexity and variable clinical presentation of TACI deficiency prompted us to evaluate the genetic, immunologic, and clinical condition in 50 individuals with TNFRSF13B alte...

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Authors: Salzer, U; Bacchelli, C; Buckridge, S; Pan-Hammarström, Q; Jennings, S

• Publication status: Published
• Journal: Blood
• Volume: 113
• Issue: 9
• Pages: 1967-1976
• Publication date: 2009-02-01
• DOI: 10.1182/blood-2008-02-141937
• EISSN: 1528-0020
• ISSN: 0006-4971
• Language: English
• Keywords: Risk Factors; Gene Frequency; Mutation; Pedigree; Cells, Cultured; Cohort Studies; Amino Acid Substitution; Alleles; Transmembrane Activator and CAML Interactor Protein; Heterozygote; Homozygote; Agammaglobulinemia; DNA Mutational Analysis; Syndrome; Genetic Predisposition to Disease; Polymorphism, Single Nucleotide; Humans; Case-Control Studies