Article
The IL-2RG R328X nonsense mutation allows partial STAT-5 phosphorylation and defines a critical region involved in the leaky-SCID phenotype.
Clinical and experimental immunology - 1 Apr 2020
Arcas-García A, Garcia-Prat M, Magallón-Lorenz M, Martín-Nalda A, Drechsel O, Ossowski S, Alonso L, Rivière J G, Soler-Palacín P, Colobran R, Sayós J, Martínez-Gallo M, Franco-Jarava C
Abstract excerpt
In addition to their detection in typical X-linked severe combined immunodeficiency, hypomorphic mutations in the interleukin (IL)-2 receptor common gamma chain gene (IL2RG) have been described in patients with atypical clinical and immunological phenotypes. In this leaky clinical phenotype the diagnosis is often delayed, limiting prompt therapy in these patients. Here, we report the biochemical and functional...
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