Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B cell dysfunction in patients with Smith- Magenis syndrome (SMS)

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 (CVID). Smith-Magenis syndrom...

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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: 2011
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3428026/
https://ncbi.nlm.nih.gov/pubmed/21514638
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaci.2011.02.046
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