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DE-627 |
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cr uuu---uuuuu |
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231225s2018 xx |||||o 00| ||eng c |
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|a 10.1016/j.clim.2017.11.007
|2 doi
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|a pubmed25n0928.xml
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|a (DE-627)NLM278460631
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|a (NLM)29180260
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|a (PII)S1521-6616(17)30691-5
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|a DE-627
|b ger
|c DE-627
|e rakwb
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| 041 |
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|a eng
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| 100 |
1 |
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|a Russell, Mark A
|e verfasserin
|4 aut
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| 245 |
1 |
2 |
|a A novel de novo activating mutation in STAT3 identified in a patient with common variable immunodeficiency (CVID)
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|c 2018
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| 336 |
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|a Text
|b txt
|2 rdacontent
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|a ƒaComputermedien
|b c
|2 rdamedia
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| 338 |
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|a ƒa Online-Ressource
|b cr
|2 rdacarrier
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| 500 |
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|a Date Completed 18.03.2019
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|a Date Revised 07.12.2022
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|a published: Print-Electronic
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|a Citation Status MEDLINE
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| 520 |
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|a Copyright © 2017 Elsevier Inc. All rights reserved.
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|a Common variable immunodeficiency (CVID) is characterised by repeated infection associated with primary acquired hypogammaglobulinemia. CVID frequently has a complex aetiology but, in certain cases, it has a monogenic cause. Recently, variants within the gene encoding the transcription factor STAT3 were implicated in monogenic CVID. Here, we describe a patient presenting with symptoms synonymous with CVID, who displayed reduced levels of IgG and IgA, repeated viral infections and multiple additional co-morbidities. Whole-exome sequencing revealed a de novo novel missense mutation in the coiled-coil domain of STAT3 (c.870A>T; p.K290N). Accordingly, the K290N variant of STAT3 was generated, and a STAT3 responsive dual-luciferase reporter assay revealed that the variant strongly enhances STAT3 transcriptional activity both under basal and stimulated (with IL-6) conditions. Overall, these data complement earlier studies in which CVID-associated STAT3 mutations are predicted to enhance transcriptional activity, suggesting that such patients may respond favourably to IL-6 receptor antagonists (e.g. tocilizumab)
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| 650 |
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|a Case Reports
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|a Journal Article
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| 650 |
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|a Research Support, Non-U.S. Gov't
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| 650 |
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4 |
|a CVID
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| 650 |
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4 |
|a Common variable immunodeficiency
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| 650 |
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4 |
|a Hypogammaglobulinemia
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| 650 |
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4 |
|a STAT3
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| 650 |
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|a Whole exome sequencing
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| 650 |
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7 |
|a Immunoglobulin A
|2 NLM
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| 650 |
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7 |
|a Immunoglobulin G
|2 NLM
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| 650 |
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7 |
|a STAT3 Transcription Factor
|2 NLM
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| 650 |
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7 |
|a STAT3 protein, human
|2 NLM
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| 700 |
1 |
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|a Pigors, Manuela
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Houssen, Maha E
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Manson, Ania
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Kelsell, David
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Longhurst, Hilary
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Morgan, Noel G
|e verfasserin
|4 aut
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| 773 |
0 |
8 |
|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 187(2018) vom: 30. Feb., Seite 132-136
|w (DE-627)NLM098196855
|x 1521-7035
|7 nnns
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| 773 |
1 |
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|g volume:187
|g year:2018
|g day:30
|g month:02
|g pages:132-136
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| 856 |
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|u http://dx.doi.org/10.1016/j.clim.2017.11.007
|3 Volltext
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| 912 |
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|a GBV_USEFLAG_A
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|a SYSFLAG_A
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| 912 |
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|a GBV_NLM
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| 912 |
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|a GBV_ILN_11
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| 912 |
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|a GBV_ILN_24
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| 912 |
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|a GBV_ILN_350
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| 951 |
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|a AR
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| 952 |
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|d 187
|j 2018
|b 30
|c 02
|h 132-136
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