TY  - JOUR
AU  - Schwerd, T
AU  - Twigg, SRF
AU  - Aschenbrenner, D
AU  - Manrique, S
AU  - Miller, KA
AU  - Taylor, IB
AU  - Capitani, M
AU  - McGowan, SJ
AU  - Sweeney, E
AU  - Weber, A
AU  - Chen, L
AU  - Bowness, P
AU  - Riordan, A
AU  - Cant, A
AU  - Freeman, AF
AU  - Milner, JD
AU  - Holland, SM
AU  - Frede, N
AU  - Müller, M
AU  - Schmidt-Arras, D
AU  - Grimbacher, B
AU  - Wall, SA
AU  - Jones, EY
AU  - Wilkie, AOM
AU  - Uhlig, HH
Y2  - 2020/12/21
Y1  - 2017/09/04
SN  - 0022-1007
UR  - http://hdl.handle.net/11343/257287
AB  - 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.
LA  - eng
PB  - Rockefeller University Press
T1  - A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.
DO  - 10.1084/jem.20161810
IS  - Journal of Experimental Medicine
VL  - 214
IS  - 9
SP  - 2547-2562
L1  - /bitstream/handle/11343/257287/PMC5584118.pdf?sequence=1&isAllowed=y
ER  -