Growth hormone insensitivity resulting from post-GH receptor defects.
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.
Rosenfeld
Ron G
RG
Lucile Packard Foundation for Children's Health, Palo Alto, CA 94304, USA. Ron.Rosenfeld@lpfch.org
Kofoed
Eric
E
Little
Brian
B
Woods
Katie
K
Buckway
Caroline
C
Pratt
Katherine
K
Hwa
Vivian
V
D000293:Adolescent; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006130:Growth Disorders / Q000150:complications* / Q000235:genetics; D019382:Human Growth Hormone / Q000502:physiology; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications*; D007371:Interferon-gamma / Q000502:physiology; D046150:Laron Syndrome / Q000150:complications*; D008894:Milk Proteins / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D011986:Receptors, Somatotropin / Q000502:physiology*; D050799:STAT5 Transcription Factor; D015398:Signal Transduction; D015534:Trans-Activators / Q000235:genetics*
D004268:DNA-Binding Proteins; D008894:Milk Proteins; D011986:Receptors, Somatotropin; D050799:STAT5 Transcription Factor; D015534:Trans-Activators; D019382:Human Growth Hormone; D007371:Interferon-gamma