Signal Transducer and Activator of Transcription 5B Deficiency Due to a Novel Missense Mutation in the Coiled-Coil Domain
TLDR A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
A 17-year-old boy with growth hormone-resistant growth failure, severe eczema, autoimmunity, and alopecia was discovered to have a novel homozygous missense mutation in the STAT5B gene, which plays a crucial role in growth and immune system regulation. Despite having normal GH levels, his insulin-like growth factor-1 (IGF-1) levels were low, and he did not respond to GH therapy. Treatment with cyclosporine improved his eczema and alopecia, but he still suffered from chronic recurring alopecia and was undersized for his age. Immunological evaluations indicated immune dysregulation, and functional tests showed reduced STAT5 phosphorylation and Treg-cell function, which are indicative of STAT5B deficiency. This case contributes to the understanding of the impact of STAT5B mutations on growth and immune function, highlighting a phenotype characterized by GH-refractory growth failure and immune dysregulation.
