Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function

Hyper-IgE syndromes comprise a group of inborn errors of immunity. STAT3-deficient hyper-IgE syndrome is characterized by elevated serum IgE levels, recurrent infections and eczema, and characteristic skeletal anomalies. A loss-of-function biallelic mutation in IL6ST encoding the GP130 receptor subu...

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Detalles Bibliográficos
Autores principales: Shahin, Tala, Aschenbrenner, Dominik, Cagdas, Deniz, Bal, Sevgi Köstel, Conde, Cecilia Domínguez, Garncarz, Wojciech, Medgyesi, David, Schwerd, Tobias, Karaatmaca, Betül, Cetinkaya, Pınar Gur, Esenboga, Saliha, Twigg, Stephen R. F., Cant, Andrew, Wilkie, Andrew O. M., Tezcan, Ilhan, Uhlig, Holm H., Boztug, Kaan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ferrata Storti Foundation 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6395342/
https://www.ncbi.nlm.nih.gov/pubmed/30309848
http://dx.doi.org/10.3324/haematol.2018.194233

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6395342/
https://www.ncbi.nlm.nih.gov/pubmed/30309848
http://dx.doi.org/10.3324/haematol.2018.194233

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