Cancer Institute A national cancer institute
designated cancer center

Caroline Buckway

Publication Details

  • Growth hormone insensitivity resulting from post-GH receptor defects GROWTH HORMONE & IGF RESEARCH Rosenfeld, R. G., Kofoed, E., Little, B., Woods, K., Buckway, C., Pratt, K., Hwa, V. 2004; 14: S35-S38


    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.

    View details for DOI 10.1016/j.ghir.2004.03.009

    View details for Web of Science ID 000221876700009

    View details for PubMedID 15135774

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