Article
Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations.
Molecular and cellular endocrinology - 15 Sept 2018
Gutiérrez Mariana, Scaglia Paula, Keselman Ana, Martucci Lucía, Karabatas Liliana, Domené Sabina, Martin Ayelen, Pennisi Patricia, Blanco Miguel, Sanguineti Nora, Bezrodnik Liliana, Di Giovanni Daniela, Caldirola María Soledad, Azcoiti María Esnaola, Gaillard María Isabel, Denson Lee A, Zhang Kejian, Husami Ammar, Yayah Jones Nana-Hawa, Hwa Vivian, Revale Santiago, Vázquez Martín, Jasper Héctor, Kumar Ashish, Domené Horacio
Abstract excerpt
Germinal heterozygous activating STAT3 mutations represent a novel monogenic defect associated with multi-organ autoimmune disease and, in some cases, severe growth retardation. By using whole-exome sequencing, we identified two novel STAT3 mutations, p.E616del and p.C426R, in two unrelated pediatric patients with IGF-I deficiency and immune dysregulation. The functional analyses showed that both variants were...
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