A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis
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 recu...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Journal article |
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Rockefeller University Press
2017
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| _version_ | 1797104602442629120 |
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| author | Schwerd, T Twigg, SRF Aschenbrenner, D Manrique, S Miller, KA Taylor, IB Capitani, M McGowan, SJ Sweeney, E Weber, A Chen, L Bowness, P Riordan, A Cant, A Freeman, AF Milner, JD Holland, SM Frede, N Müller, M Schmidt-Arras, D Grimbache, B Wall, SA Jones, EY Wilkie, AOM Uhlig, HH |
| author_facet | Schwerd, T Twigg, SRF Aschenbrenner, D Manrique, S Miller, KA Taylor, IB Capitani, M McGowan, SJ Sweeney, E Weber, A Chen, L Bowness, P Riordan, A Cant, A Freeman, AF Milner, JD Holland, SM Frede, N Müller, M Schmidt-Arras, D Grimbache, B Wall, SA Jones, EY Wilkie, AOM Uhlig, HH |
| author_sort | Schwerd, T |
| collection | OXFORD |
| description | 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. |
| first_indexed | 2024-03-07T06:36:01Z |
| format | Journal article |
| id | oxford-uuid:f7a63a33-3b1a-4580-b173-45ae91c62211 |
| institution | University of Oxford |
| last_indexed | 2024-03-07T06:36:01Z |
| publishDate | 2017 |
| publisher | Rockefeller University Press |
| record_format | dspace |
| spelling | oxford-uuid:f7a63a33-3b1a-4580-b173-45ae91c622112022-03-27T12:44:22ZA biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosisJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:f7a63a33-3b1a-4580-b173-45ae91c62211Symplectic Elements at OxfordRockefeller University Press2017Schwerd, TTwigg, SRFAschenbrenner, DManrique, SMiller, KATaylor, IBCapitani, MMcGowan, SJSweeney, EWeber, AChen, LBowness, PRiordan, ACant, AFreeman, AFMilner, JDHolland, SMFrede, NMüller, MSchmidt-Arras, DGrimbache, BWall, SAJones, EYWilkie, AOMUhlig, HHMultiple 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. |
| spellingShingle | Schwerd, T Twigg, SRF Aschenbrenner, D Manrique, S Miller, KA Taylor, IB Capitani, M McGowan, SJ Sweeney, E Weber, A Chen, L Bowness, P Riordan, A Cant, A Freeman, AF Milner, JD Holland, SM Frede, N Müller, M Schmidt-Arras, D Grimbache, B Wall, SA Jones, EY Wilkie, AOM Uhlig, HH A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis |
| title | A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis |
| title_full | A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis |
| title_fullStr | A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis |
| title_full_unstemmed | A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis |
| title_short | A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis |
| title_sort | biallelic mutation in il6st encoding the gp130 co receptor causes immunodeficiency and craniosynostosis |
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