Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations

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 pediatri...

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Bibliographic Details
Main Authors:	Gutiérrez, M, Scaglia, P, Keselman, A, Martucci, L, Karabatas, L, Domené, S, Martín, A, Pennisi, P, Blanco, M, Sanguineti, N, Bezrodnik, L, Di Giovanni, D, Caldirola, MS, Azcoiti, ME, Gaillard, MI, Denson, LA, Zhang, K, Husami, A, Jones, N-H, Hwa, V, Revale, S, Vázquez, M, Jasper, H, Kumar, A, Domené, H
Format:	Journal article
Language:	English
Published:	Elsevier 2018

Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations

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