Nature Communications (May 2018)
Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation
- 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
Affiliations
- Jürgen Klammt
- Department of Women’s and Child Health, University Hospital Leipzig
- David Neumann
- Department of Pediatrics, Faculty of Medicine, University Hospital Hradec Kralove, Charles University, Prague
- Evelien F. Gevers
- Department of Pediatric Endocrinology, Royal London Children’s Hospital, Barts Health NHS Trust
- Shayne F. Andrew
- Division of Endocrinology, 240 Albert Sabin Way, Cincinnati Children’s Hospital Medical Center, University of Cincinnati College of Medicine
- I. David Schwartz
- Mercy Kids Pediatric Endocrinology & Diabetes, Mercy Children’s Hospital and Mercy Clinic
- Denise Rockstroh
- Department of Women’s and Child Health, University Hospital Leipzig
- Roberto Colombo
- Institute of Clinical Biochemistry, Faculty of Medicine, Catholic University and IRCCS Policlinico Agostino Gemelli
- Marco A. Sanchez
- Department of Molecular Microbiology and Immunology, Oregon Health & Science University
- Doris Vokurkova
- Department of Clinical Immunology and Allergology, Faculty of Medicine, University Hospital Hradec Kralove, Charles University, Prague
- Julia Kowalczyk
- Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London
- Louise A. Metherell
- Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London
- Ron G. Rosenfeld
- Department of Pediatrics, Oregon Health & Science University
- Roland Pfäffle
- Department of Women’s and Child Health, University Hospital Leipzig
- Mehul T. Dattani
- Section of Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme, University College London, Great Ormond Street Institute of Child Health
- Andrew Dauber
- Division of Endocrinology, 240 Albert Sabin Way, Cincinnati Children’s Hospital Medical Center, University of Cincinnati College of Medicine
- Vivian Hwa
- Division of Endocrinology, 240 Albert Sabin Way, Cincinnati Children’s Hospital Medical Center, University of Cincinnati College of Medicine
- DOI
- https://doi.org/10.1038/s41467-018-04521-0
- Journal volume & issue
-
Vol. 9,
no. 1
pp. 1 – 10
Abstract
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.
