Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses
© 2019 Crown copyright. The government of Australia, Canada, or the UK ("the Crown") owns the copyright interests of authors who are government employees. The Crown Copyright is not transferable..
IL-6 excess is central to the pathogenesis of multiple inflammatory conditions and is targeted in clinical practice by immunotherapy that blocks the IL-6 receptor encoded by IL6R We describe two patients with homozygous mutations in IL6R who presented with recurrent infections, abnormal acute-phase responses, elevated IgE, eczema, and eosinophilia. This study identifies a novel primary immunodeficiency, clarifying the contribution of IL-6 to the phenotype of patients with mutations in IL6ST, STAT3, and ZNF341, genes encoding different components of the IL-6 signaling pathway, and alerts us to the potential toxicity of drugs targeting the IL-6R.
| Errataetall: |
CommentIn: J Exp Med. 2019 Sep 2;216(9):1969-1971. - PMID 31235508 |
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| Medienart: |
E-Artikel |
| Erscheinungsjahr: |
2019 |
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| Erschienen: |
2019 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:216 |
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| Enthalten in: |
The Journal of experimental medicine - 216(2019), 9 vom: 02. Sept., Seite 1986-1998 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Spencer, Sarah [VerfasserIn] |
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| Links: |
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| Themen: |
Case Reports |
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| Anmerkungen: |
Date Completed 10.06.2020 Date Revised 10.02.2024 published: Print-Electronic CommentIn: J Exp Med. 2019 Sep 2;216(9):1969-1971. - PMID 31235508 Citation Status MEDLINE |
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| doi: |
10.1084/jem.20190344 |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM298496569 |
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| 245 | 1 | 0 | |a Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses |
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| 500 | |a Date Completed 10.06.2020 | ||
| 500 | |a Date Revised 10.02.2024 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a CommentIn: J Exp Med. 2019 Sep 2;216(9):1969-1971. - PMID 31235508 | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © 2019 Crown copyright. The government of Australia, Canada, or the UK ("the Crown") owns the copyright interests of authors who are government employees. The Crown Copyright is not transferable. | ||
| 520 | |a IL-6 excess is central to the pathogenesis of multiple inflammatory conditions and is targeted in clinical practice by immunotherapy that blocks the IL-6 receptor encoded by IL6R We describe two patients with homozygous mutations in IL6R who presented with recurrent infections, abnormal acute-phase responses, elevated IgE, eczema, and eosinophilia. This study identifies a novel primary immunodeficiency, clarifying the contribution of IL-6 to the phenotype of patients with mutations in IL6ST, STAT3, and ZNF341, genes encoding different components of the IL-6 signaling pathway, and alerts us to the potential toxicity of drugs targeting the IL-6R | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, N.I.H., Intramural | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 7 | |a Receptors, Interleukin-6 |2 NLM | |
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| 700 | 1 | |a Egner, William |e verfasserin |4 aut | |
| 700 | 1 | |a Lango Allen, Hana |e verfasserin |4 aut | |
| 700 | 1 | |a Raza, Syed I |e verfasserin |4 aut | |
| 700 | 1 | |a Ma, Chi A |e verfasserin |4 aut | |
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| 700 | 1 | |a Sun, Guangping |e verfasserin |4 aut | |
| 700 | 1 | |a Sabroe, Ruth A |e verfasserin |4 aut | |
| 700 | 1 | |a Greene, Daniel |e verfasserin |4 aut | |
| 700 | 1 | |a Rae, William |e verfasserin |4 aut | |
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