Journal article
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
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- Publisher copy:
- 10.3324/haematol.2018.194233
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Authors
Funding
+ Leona M. and the Harry B. Helmsley Charitable Trust
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Funding agency for:
Uhlig, H
Medical University of Vienna
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Bibliographic Details
- 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
- Source identifiers:
-
927451
Item Description
- Pubs id:
-
pubs:927451
- UUID:
-
uuid:c519fe71-e1d7-4d48-8564-f543d4ab1de0
- Local pid:
- pubs:927451
- Deposit date:
- 2018-10-15
Terms of use
- Copyright holder:
- Ferrata Storti Foundation
- Copyright date:
- 2018
- Notes:
- Copyright © 2019 Ferrata Storti Foundation. This article has been published under a BY-NC Creatice Commons license.
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