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A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis
Journal of Experimental Medicine ( IF 12.6 ) Pub Date : 2017-09-04 , DOI: 10.1084/jem.20161810
Tobias Schwerd 1, 2 , Stephen R.F. Twigg 3 , Dominik Aschenbrenner 1 , Santiago Manrique 4 , Kerry A. Miller 3 , Indira B. Taylor 3 , Melania Capitani 1 , Simon J. McGowan 5 , Elizabeth Sweeney 6 , Astrid Weber 6 , Liye Chen 7 , Paul Bowness 7 , Andrew Riordan 8 , Andrew Cant 9 , Alexandra F. Freeman 10 , Joshua D. Milner 11 , Steven M. Holland 10 , Natalie Frede 12 , Miryam Müller 13 , Dirk Schmidt-Arras 13 , Bodo Grimbacher 12, 14 , Steven A. Wall 15 , E. Yvonne Jones 4 , Andrew O.M. Wilkie 3, 15 , Holm H. Uhlig 1, 16
Affiliation  

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.



中文翻译:

IL6ST中编码GP130共受体的双等位基因突变导致免疫缺陷和颅突

多种细胞因子,包括白介素6(IL-6),IL-11,IL-27,制瘤素M(OSM)和白血病抑制因子(LIF),通过共同的GP130细胞因子受体亚基发出信号。在这项研究中,我们描述了一个具有IL6ST纯合突变(编码GP130 p.N404Y)的患者,该患者表现为反复感染,湿疹,支气管扩张,高IgE,嗜酸性粒细胞增多,B细胞记忆缺陷以及急性期反应受损,以及骨骼异常,包括颅突。p.N404Y错义替换与IL-6,IL-11,IL-27和OSM信号转导缺失有关,但与LIF反应基本保持一致。这项研究确定了一种新的免疫缺陷病,其表型相似性是由GP130功能丧失引起的STAT3高IgE综合征。

更新日期:2017-09-04
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