title: Growth hormone insensitivity resulting from post-GH receptor defects.
abstract: 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.
authors.affiliation: Lucile Packard Foundation for Children's Health, Palo Alto, CA 94304, USA. Ron.Rosenfeld@lpfch.org
authors.forename: Ron G
authors.initials: RG
authors.lastname: Rosenfeld
authors.forename: Eric
authors.initials: E
authors.lastname: Kofoed
authors.forename: Brian
authors.initials: B
authors.lastname: Little
authors.forename: Katie
authors.initials: K
authors.lastname: Woods
authors.forename: Caroline
authors.initials: C
authors.lastname: Buckway
authors.forename: Katherine
authors.initials: K
authors.lastname: Pratt
authors.forename: Vivian
authors.initials: V
authors.lastname: Hwa
mesh_terms: 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*
chemical_list: D004268:DNA-Binding Proteins; D008894:Milk Proteins; D011986:Receptors, Somatotropin; D050799:STAT5 Transcription Factor; D015534:Trans-Activators; D019382:Human Growth Hormone; D007371:Interferon-gamma