Article
Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes.
Blood - 26 Feb 2009
Salzer Ulrich, Bacchelli Chiara, Buckridge Sylvie, Pan-Hammarström Qiang, Jennings Stephanie, Lougaris Vassilis, Bergbreiter Astrid, Hagena Tina, Birmelin Jennifer, Plebani Alessandro, Webster A David B, Peter Hans-Hartmut, Suez Daniel, Chapel Helen, McLean-Tooke Andrew, Spickett Gavin P, Anover-Sombke Stephanie, Ochs Hans D, Urschel Simon, Belohradsky Bernd H, Ugrinovic Sanja, Kumararatne Dinakantha S, Lawrence Tatiana C, Holm Are M, Franco Jose L, Schulze Ilka, Schneider Pascal, Gertz E Michael, Schäffer Alejandro A, Hammarström Lennart, Thrasher Adrian J, Gaspar H Bobby, Grimbacher Bodo
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.