Dominant gain-of-function STAT1 mutations in FOXP3(WT) IPEX-like Syndrome

BACKGROUND: Mutations in STAT1 cause a broad spectrum of disease, ranging from severe viral and bacterial infections (amorphic alleles), to mild disseminated mycobacterial disease (hypomorphic alleles), to chronic mucocutaneous candidiasis (hypermorphic alleles). The hypermorphic mutations are also...

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Hlavní autoři: Uzel, Gulbu, Sampaio, Elizabeth P., Lawrence, Monica G., Hsu, Amy P., Hackett, Mary, Dorsey, Morna J., Noel, Richard J., Verbsky, James W., Freeman, Alexandra F., Janssen, Erin, Bonilla, Francisco A., Pechacek, Joseph, Chandrasekaran, Prabha, Browne, Sarah K., Agharahimi, Anahita, Gharib, Ahmed M., Mannurita, Sara C., Yim, Jae Joon, Gambineri, Eleonora, Torgerson, Troy, Tran, Dat Q., Milner, Joshua D., Holland, Steven M.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2013
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3672257/
https://ncbi.nlm.nih.gov/pubmed/23534974
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaci.2012.11.054
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