A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis
Journal of Experimental Medicine Aug 09, 2017
Schwerd T, et al. – Objective of this work is to figure out if a biallelic mutation in IL6ST encoding the GP130 co–receptor causes immunodeficiency and craniosynostosis. A novel immunodeficiency with phenotypic similarities to STAT3 hyper–IgE syndrome causes by loss of function of GP130, has been determined in this study.
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