Growth hormone insensitivity resulting from post-GH receptor defects
| Autor: | Vivian Hwa, Eric M. Kofoed, Caroline K. Buckway, Ron G. Rosenfeld, Kathryn (Katie) Woods, Katherine L. Pratt, Brian M. Little |
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| Rok vydání: | 2004 |
| Předmět: |
medicine.medical_specialty
Adolescent Endocrinology Diabetes and Metabolism Biology Growth hormone Interferon-gamma Endocrinology Immune system Internal medicine medicine STAT5 Transcription Factor Humans Growth Disorders GH Receptor Human Growth Hormone Immunologic Deficiency Syndromes Receptors Somatotropin medicine.disease Milk Proteins Phenotype Laron Syndrome DNA-Binding Proteins Mutation (genetic algorithm) Mutation Primary immunodeficiency Trans-Activators Female Signal Transduction |
| Zdroj: | Growth hormoneIGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society. 14 |
| ISSN: | 1096-6374 |
| Popis: | Biochemical analysis indicates that the STAT-5b mutation affects signaling by both growth hormone (GH) and gamma-interferon. A patient with such a mutation thus manifests two new clinical disorders: (1) growth hormone insensitivity (GHI), which results from a post-receptor defect in GH signaling and (2) a new form of primary immunodeficiency. Given that the GH receptor is a member of the hematopoietin-receptor family, it seems reasonable to predict that additional cases of defects in GH signaling will be identified. The predicted phenotype would be GHI combined with defects in the immune system. |
| Databáze: | OpenAIRE |
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