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

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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Bibliographic Details
Main Authors: Tala Shahin, Dominik Aschenbrenner, Deniz Cagdas, Sevgi Köstel Bal, Cecilia Domínguez Conde, Wojciech Garncarz, David Medgyesi, Tobias Schwerd, Betül Karaatmaca, Pınar Gur Cetinkaya, Saliha Esenboga, Stephen R. F. Twigg, Andrew Cant, Andrew O. M. Wilkie, Ilhan Tezcan, Holm H. Uhlig, Kaan Boztug
Format: Article
Language:English
Published: Ferrata Storti Foundation 2019-03-01
Series:Haematologica
Online Access:https://haematologica.org/article/view/8818

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https://haematologica.org/article/view/8818

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