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Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations

Abstract:

Germinal heterozygous activating STAT3 mutations represent a novel monogenic defect associated with multi-organ autoimmune disease and, in some cases, severe growth retardation. By using whole-exome sequencing, we identified two novel STAT3 mutations, p.E616del and p.C426R, in two unrelated pediatric patients with IGF-I deficiency and immune dysregulation. The functional analyses showed that both variants were gain-of-function (GOF), although they were not constitutively phosphorylated. They ...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1016/j.mce.2018.01.016

Authors


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Fundación Alberto J. Roemmers More from this funder
Publisher:
Elsevier Publisher's website
Journal:
Molecular and Cellular Endocrinology Journal website
Volume:
473
Pages:
166-177
Publication date:
2018-01-25
Acceptance date:
2018-01-23
DOI:
EISSN:
1872-8057
ISSN:
0303-7207
Pmid:
29378236
Source identifiers:
821938
Language:
English
Keywords:
Pubs id:
pubs:821938
UUID:
uuid:120e5b18-65e2-4c04-9057-50096cf1bce6
Local pid:
pubs:821938
Deposit date:
2018-02-06

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