Short Stature in a Boy with Multiple Early-Onset Autoimmune Conditions due to a <b><i>STAT3</i></b> Activating Mutation: Could Intracellular Growth Hormone Signalling Be Compromised?-Reference-Cited by-同舟云学术

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

Published:2017 Issue:2 Volume:88 Page:160-166
ISSN:1663-2818
Container-title:Hormone Research in Paediatrics
language:en
Short-container-title:Horm Res Paediatr

Author:

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^ORCID,Pruhova Stepanka

Publisher

S. Karger AG

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Reference23 articles.

1. Milner JD, Vogel TP, Forbes L, Ma CA, Stray-Pedersen A, Niemela JE, et al: Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations. Blood 2015;125: 591–600.

2. Flanagan SE, Haapaniemi E, Russell MA, Caswell R, Allen HL, De Franco E, et al: Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. Nat Genet 2014;46: 812–814.

3. Haapaniemi EM, Kaustio M, Rajala HLM, van Adrichem AJ, Kainulainen L, Glumoff V, et al: Autoimmunity, hypogammaglobulinemia, lymphoproliferation and mycobacterial disease in patients with activating mutations in STAT3. Blood 2015;125: 639–649.

4. Knosp CA, Johnston JA: Regulation of CD4+ T-cell polarization by suppressor of cytokine signalling proteins. Immunology 2012;135: 101–111.

5. Levy DE, Darnell JE: Stats: transcriptional control and biological impact. Nat Rev Mol Cell Biol 2002;3: 651–662.

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