Article
Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndrome.
The Journal of allergy and clinical immunology - 1 Jun 2011
Chinen Javier, Martinez-Gallo Monica, Gu Wenli, Cols Montserrat, Cerutti Andrea, Radigan Lin, Zhang Li, Potocki Lorraine, Withers Marjorie, Lupski James R, Cunningham-Rundles Charlotte
Abstract excerpt
BACKGROUND: Heterozygous deleterious mutations in the gene encoding the tumor necrosis factor receptor superfamily member 13b (TNFRSF13B), or transmembrane activator and CAML interactor (TACI), have been associated with the development of common variable immunodeficiency. Smith-Magenis syndrome (SMS) is a genetic disorder characterized by developmental delay, behavioral disturbances, craniofacial anomalies, and...
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