Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation
Severe growth hormone insensitivity syndrome (GHIS) with immunodeficiency is caused by autosomal recessive mutations in STAT5B. Here the authors report heterozygous STAT5B mutations with dominant-negative effects, causing mild GHIS without immune defects.
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Nature Portfolio
2018
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oai:doaj.org-article:2f6935ea40d3432bb5ef0a1b2cc1c9952021-12-02T17:32:17ZDominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation10.1038/s41467-018-04521-02041-1723https://doaj.org/article/2f6935ea40d3432bb5ef0a1b2cc1c9952018-05-01T00:00:00Zhttps://doi.org/10.1038/s41467-018-04521-0https://doaj.org/toc/2041-1723Severe growth hormone insensitivity syndrome (GHIS) with immunodeficiency is caused by autosomal recessive mutations in STAT5B. Here the authors report heterozygous STAT5B mutations with dominant-negative effects, causing mild GHIS without immune defects.Jürgen KlammtDavid NeumannEvelien F. GeversShayne F. AndrewI. David SchwartzDenise RockstrohRoberto ColomboMarco A. SanchezDoris VokurkovaJulia KowalczykLouise A. MetherellRon G. RosenfeldRoland PfäffleMehul T. DattaniAndrew DauberVivian HwaNature PortfolioarticleScienceQENNature Communications, Vol 9, Iss 1, Pp 1-10 (2018) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Science Q |
| spellingShingle |
Science Q Jürgen Klammt David Neumann Evelien F. Gevers Shayne F. Andrew I. David Schwartz Denise Rockstroh Roberto Colombo Marco A. Sanchez Doris Vokurkova Julia Kowalczyk Louise A. Metherell Ron G. Rosenfeld Roland Pfäffle Mehul T. Dattani Andrew Dauber Vivian Hwa Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation |
| description |
Severe growth hormone insensitivity syndrome (GHIS) with immunodeficiency is caused by autosomal recessive mutations in STAT5B. Here the authors report heterozygous STAT5B mutations with dominant-negative effects, causing mild GHIS without immune defects. |
| format |
article |
| author |
Jürgen Klammt David Neumann Evelien F. Gevers Shayne F. Andrew I. David Schwartz Denise Rockstroh Roberto Colombo Marco A. Sanchez Doris Vokurkova Julia Kowalczyk Louise A. Metherell Ron G. Rosenfeld Roland Pfäffle Mehul T. Dattani Andrew Dauber Vivian Hwa |
| author_facet |
Jürgen Klammt David Neumann Evelien F. Gevers Shayne F. Andrew I. David Schwartz Denise Rockstroh Roberto Colombo Marco A. Sanchez Doris Vokurkova Julia Kowalczyk Louise A. Metherell Ron G. Rosenfeld Roland Pfäffle Mehul T. Dattani Andrew Dauber Vivian Hwa |
| author_sort |
Jürgen Klammt |
| title |
Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation |
| title_short |
Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation |
| title_full |
Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation |
| title_fullStr |
Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation |
| title_full_unstemmed |
Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation |
| title_sort |
dominant-negative stat5b mutations cause growth hormone insensitivity with short stature and mild immune dysregulation |
| publisher |
Nature Portfolio |
| publishDate |
2018 |
| url |
https://doaj.org/article/2f6935ea40d3432bb5ef0a1b2cc1c995 |
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| _version_ |
1718380298148773888 |