Paucity of Genotype-phenotype correlations in STAT3 mutation positive Hyper IgE Syndrome (HIES)

Autosomal dominant HIES (AD-HIES) is a primary immunodeficiency caused by dominant negative mutations in STAT3 clustered in the DNA binding and SH2 domains. Although in vitro differences in mutational constructs are observed, clinical phenotypic correlates of these genetic changes have not been desc...

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Hlavní autoři: Heimall, Jennifer, Davis, Joie, Shaw, Pamela A., Hsu, Amy P., Gu, Wenjuan, Welch, Pam, Holland, Steven M., Freeman, Alexandra F.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2011
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3065511/
https://ncbi.nlm.nih.gov/pubmed/21288777
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.clim.2011.01.001
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