Article
Characterization of immunodeficiency in a patient with growth hormone insensitivity secondary to a novel STAT5b gene mutation.
Pediatrics - 1 Nov 2006
Bernasconi Andrea, Marino Roxana, Ribas Alejandra, Rossi Jorge, Ciaccio Marta, Oleastro Matías, Ornani Alicia, Paz Rubén, Rivarola Marco A, Zelazko Marta, Belgorosky Alicia
Abstract excerpt
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...
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