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Case Reports
. 2024 May 24;44(6):134.
doi: 10.1007/s10875-024-01727-4.

Growth Failure in STAT3 Gain-of-Function Syndrome Persists After Hematopoietic Stem Cell Transplantation

Filippo Consonni  1   2 , Giulia Del Medico  3 ; Florence STAT3 GOF consortium; Stefano Stagi  3   4 , Eleonora Gambineri  5   6
Collaborators, Affiliations
Case Reports

Growth Failure in STAT3 Gain-of-Function Syndrome Persists After Hematopoietic Stem Cell Transplantation

Filippo Consonni et al. J Clin Immunol. .
No abstract available

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References

    1. Leiding JW, Vogel TP, Santarlas VGJ, et al. Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome. J Allergy Clin Immunol. 2023;151:1081–95. https://doi.org/10.1016/j.jaci.2022.09.002
    1. Gutiérrez M. Activating mutations of STAT3: Impact on human growth. Mol Cell Endocrinol. 2020;518:110979. https://doi.org/10.1016/j.mce.2020.110979
    1. Todaro F, Tamassia N, Pinelli M, et al. Multisystem autoimmune disease caused by increased STAT3 phosphorylation and dysregulated gene expression. Haematologica. 2019;104:322–5. https://doi.org/10.3324/haematol.2018.202374
    1. Ciullini Mannurita S, Goda R, Schiavo E, et al. Case report: signal transducer and activator of transcription 3 gain-of-function and spectrin deficiency: a life-threatening case of severe hemolytic anemia. Front Immunol. 2021;11:1–6. https://doi.org/10.3389/fimmu.2020.620046
    1. Sediva H, Dusatkova P, Kanderova V, et al. Short stature in a boy with multiple early-onset autoimmune conditions due to a STAT3 activating mutation: could intracellular growth hormone signalling be compromised? Horm Res Paediatr. 2017;88:160–6. https://doi.org/10.1159/000456544

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