Short Stature in a Boy with Multiple Early-Onset Autoimmune Conditions due to a STAT3 Activating Mutation: Could Intracellular Growth Hormone Signalling Be Compromised? .

doi:10.1159/000456544

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Short Stature in a Boy with Multiple Early-Onset Autoimmune Conditions due to a STAT3 Activating Mutation: Could Intracellular Growth Hormone Signalling Be Compromised? .

Hormone research in paediatrics - 1 Jan 2017

Sediva Hana, Dusatkova Petra, Kanderova Veronika, Obermannova Barbora, Kayserova Jana, Sramkova Lucie, Zemkova Dana, Elblova Lenka, Svaton Michal, Zachova Radana, Kolouskova Stanislava, Fronkova Eva, Sumnik Zdenek, Sediva Anna, Lebl Jan, Pruhova Stepanka

Abstract excerpt

BACKGROUND: Germline STAT3 gain-of-function (GOF) mutations cause multiple endocrine and haematologic autoimmune disorders, lymphoproliferation, and growth impairment. As the JAK-STAT pathway is known to transduce the growth hormone (GH) signalling, and STAT3 interacts with STAT5 in growth regulation, we hypothesised that short stature in STAT3 GOF mutations results mostly from GH insensitivity via involving...

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Short Stature in a Boy with Multiple Early-Onset Autoimmune Conditions due to a STAT3 Activating Mutation: Could Intracellular Growth Hormone Signalling Be Compromised? .

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Short Stature in a Boy with Multiple Early-Onset Autoimmune Conditions due to a STAT3 Activating Mutation: Could Intracellular Growth Hormone Signalling Be Compromised? .