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:	Shahin, T, Aschenbrenner, D, Cagdas, D, Bal, S, Conde, C, Garncarz, W, Medgyesi, D, Schwerd, T, Karaatmaca, B, Cetinkaya, P, Twigg, S, Cant, A, Wilkie, A, Tezcan, I, Uhlig, H, Boztug, K
Format:	Journal article
Published:	Ferrata Storti Foundation 2018

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

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