Characterization of Immunodeficiency in a Patient With Growth Hormone Insensitivity Secondary to a Novel STAT5b Gene Mutation
A Bernasconi, R Marino, A Ribas, J Rossi… - …, 2006 - publications.aap.org
STAT5 proteins are components of the common growth hormone and interleukin 2 family of
cytokines' signaling pathway. Mutations in the STAT5b gene, described in 2 patients, lead to
growth hormone insensitivity that resembles Laron syndrome. Clinical immunodeficiency
was also present, although immunologic defects have not been well characterized thus far.
Here we describe a 16-year-old girl who suffered generalized eczema and recurrent
infections of the skin and respiratory tract since birth. She also suffered severe chronic lung …
cytokines' signaling pathway. Mutations in the STAT5b gene, described in 2 patients, lead to
growth hormone insensitivity that resembles Laron syndrome. Clinical immunodeficiency
was also present, although immunologic defects have not been well characterized thus far.
Here we describe a 16-year-old girl who suffered generalized eczema and recurrent
infections of the skin and respiratory tract since birth. She also suffered severe chronic lung …