Ontology highlight
ABSTRACT:
SUBMITTER: Schwerd T
PROVIDER: S-EPMC5584118 | biostudies-literature | 2017 Sep
REPOSITORIES: biostudies-literature
The Journal of experimental medicine 20170726 9
Multiple cytokines, including interleukin 6 (IL-6), IL-11, IL-27, oncostatin M (OSM), and leukemia inhibitory factor (LIF), signal via the common GP130 cytokine receptor subunit. In this study, we describe a patient with a homozygous mutation of <i>IL6ST</i> (encoding GP130 p.N404Y) who presented with recurrent infections, eczema, bronchiectasis, high IgE, eosinophilia, defective B cell memory, and an impaired acute-phase response, as well as skeletal abnormalities including craniosynostosis. Th ...[more]