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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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2011
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Article
Accesso online: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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