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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 IL6ST (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. The p.N404Y missense substitution is associated with loss of IL-6, IL-11, IL-27, and OSM signaling but a largely intact LIF response. This study identifies a novel immunodeficiency with phenotypic similarities to STAT3 hyper-IgE syndrome caused by loss of function of GP130.

Original publication

DOI

10.1084/jem.20161810

Type

Journal article

Journal

The Journal of experimental medicine

Publication Date

09/2017

Volume

214

Pages

2547 - 2562

Addresses

Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University of Munich, Munich, Germany.

Keywords

Humans, Craniosynostoses, Immunologic Deficiency Syndromes, Interleukins, Interleukin-6, Interleukin-11, Mutation, Missense, Child, Preschool, Female, Cytokine Receptor gp130, Exome