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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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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2011
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| Assuntos: | |
| Acesso em linha: | 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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