The C104R mutant impairs the function of transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI) through haploinsufficiency

BACKGROUND: TNFRSF13B, which encodes transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI), is mutated in 10% of patients with common variable immunodeficiency. One of the 2 most common TACI mutations in common variable immunodeficiency, C104R, abolishes ligand bindi...

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Hauptverfasser: Lee, John J., Jabara, Haifa H., Garibyan, Lilit, Rauter, Ingrid, Sannikova, Tatyana, Dillon, Stacey R., Bram, Richard, Geha, Raif S.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2010
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3122265/
https://ncbi.nlm.nih.gov/pubmed/20889194
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaci.2010.08.017
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