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Selective loss of function variants in IL6ST cause hyper-IgE syndrome with distinct impairments of T-cell phenotype and function

Abstract:

Hyper-IgE syndromes comprise a group of inborn errors of immunity. STAT3-deficient hyper-IgE syndrome is characterized by elevated serum IgE levels, recurrent infections and eczema, and characteristic skeletal anomalies. A loss-of-function biallelic mutation in IL6ST encoding the GP130 receptor subunit (p.N404Y) has very recently been identified in a singleton patient (herein referred to as PN404Y) as a novel etiology of hyper-IgE syndrome. Here, we studied a patient with hyper-IgE syndrome c...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
NDM
Subgroup:
NDM Experimental Medicine
Role:
Author
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Funding agency for:
Twigg, SRF
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Funding agency for:
Wilkie, AOM
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Funding agency for:
Wilkie, AOM
Medical University of Vienna More from this funder
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Publisher:
Ferrata Storti Foundation Publisher's website
Journal:
Haematologica Journal website
Volume:
104
Issue:
3
Pages:
609-621
Publication date:
2018-10-11
Acceptance date:
2018-10-03
DOI:
EISSN:
1592-8721
ISSN:
0390-6078
Pubs id:
pubs:927451
URN:
uri:c519fe71-e1d7-4d48-8564-f543d4ab1de0
UUID:
uuid:c519fe71-e1d7-4d48-8564-f543d4ab1de0
Local pid:
pubs:927451

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