Biochemical analysis indicates that the STAT-5b mutation affects signaling by both growth hormone (GH) and γ-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.
- Growth hormone insensitivity (GHI)
- Signal transducers and activators of transcription 5b (STAT-5b)
ASJC Scopus subject areas
- Endocrinology, Diabetes and Metabolism