Associated Papers
JAK/STAT in human diseases: a common axis in immunodeficiencies and hematological disorders.
Djidjik R et al.
Frontiers in Immunology, 2025
A zebrafish model of growth hormone insensitivity syndrome with immune dysregulation 1 (GHISID1).
Heidary S et al.
Cellular and Molecular Life Sciences : Cmls, 2023
STAT5B restrains human B-cell differentiation to maintain humoral immune homeostasis.
Pelham SJ et al.
The Journal of Allergy and Clinical Immunology, 2022
STAT5b: A master regulator of key biological pathways.
Smith MR et al.
Frontiers in Immunology, 2022
Human growth disorders associated with impaired GH action: Defects in STAT5B and JAK2.
Hwa V
Molecular and Cellular Endocrinology, 2021
Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action.
Storr HL et al.
Endocrine Reviews, 2019
Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain.
Acres MJ et al.
The Journal of Allergy and Clinical Immunology, 2019
Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation.
Klammt J et al.
Nature Communications, 2018
STAT5B deficiency: Impacts on human growth and immunity.
Hwa V
Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society, 2016
STAT5B mutations in heterozygous state have negative impact on height: another clue in human stature heritability.
Scalco RC et al.
European Journal of Endocrinology, 2015
Long-term follow-up of STAT5B deficiency in three argentinian patients: clinical and immunological features.
Bezrodnik L et al.
Journal of Clinical Immunology, 2015
[STAT5B deficiency: a new growth hormone insensitivity syndrome associated to immunological dysfunction].
Scalco RC et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2013
Current issues on molecular diagnosis of GH signaling defects.
Feigerlova E et al.
Endocrine Development, 2013
Immune deficiency and autoimmunity.
Atkinson TP
Current Opinion in Rheumatology, 2012
A novel missense mutation in the SH2 domain of the STAT5B gene results in a transcriptionally inactive STAT5b associated with severe IGF-I deficiency, immune dysfunction, and lack of pulmonary disease.
Scaglia PA et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
The STAT5b Pathway Defect and Autoimmunity.
Kanai T et al.
Frontiers in Immunology, 2012
Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity.
David A et al.
Endocrine Reviews, 2011
STAT5b deficiency: an unsuspected cause of growth failure, immunodeficiency, and severe pulmonary disease.
Nadeau K et al.
The Journal of Pediatrics, 2011
Genetic Defects in the Growth Hormone-IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth.
Savage MO et al.
Frontiers in Endocrinology, 2011
Genetic defects of the growth-hormone-IGF axis associated with growth hormone insensitivity.
Woods K
Endocrine Development, 2007