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

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Fig. 1

Data Availability

No datasets were generated or analysed during the current study.

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

  2. 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

  3. 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

  4. 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

  5. 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

  6. Muthuvel G, Al Remeithi SS, Foley C, et al. Recombinant human insulin-like growth factor-1 treatment of severe growth failure in three siblings with STAT5B deficiency. Horm Res Paediatr Published Online First. 2023. https://doi.org/10.1159/000531491.

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Acknowledgements

We acknowledge patients and their families and the nurse staff of our Pediatric Oncology/Hematology division for their valuable support.

Florence STAT3 GOF consortium: Linda Zollo3, Daniela Cuzzubbo2, Stefano Frenos2, Laura Lacitignola6, Maria Chiara Sanvito2, Veronica Tintori2, Paolo Lionetti5,6(ORCID: 0000-0001-8029-3904),

2Centre of Excellence, Division of Pediatric Oncology/Hematology, Meyer Children’s Hospital IRCCS, Florence, Italy

3Department of Health Sciences, University of Florence, Florence, Italy

5Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy

6Gastroenterology and Nutrition Unit, Meyer Children’s Hospital IRCCS, Florence, Italy.

Funding

This study was supported in part by funds from the ‘Current Research Annual Funding’ of the Italian Ministry of Health and the Jeffrey Modell Foundation Specific Defect Research Grant.

Author information

Authors and Affiliations

  1. Department of Experimental and Clinical Biomedical Sciences “Mario Serio”, University of Florence, Florence, Italy

    Filippo Consonni

  2. Centre of Excellence, Division of Pediatric Oncology/Hematology, Meyer Children’s Hospital IRCCS, Florence, Italy

    Filippo Consonni & Eleonora Gambineri

  3. Department of Health Sciences, University of Florence, Florence, Italy

    Giulia Del Medico & Stefano Stagi

  4. Auxoendocrinology Division, Meyer Children’s Hospital IRCCS, Florence, Italy

    Stefano Stagi

  5. Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy

    Eleonora Gambineri

Authors
  1. Filippo Consonni
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  2. Giulia Del Medico
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  3. Stefano Stagi
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  4. Eleonora Gambineri
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Consortia

Florence STAT3 GOF consortium

  • Linda Zollo
  • , Daniela Cuzzubbo
  • , Stefano Frenos
  • , Laura Lacitignola
  • , Maria Chiara Sanvito
  • , Veronica Tintori
  •  & Paolo Lionetti

Contributions

FC and GDM wrote the original manuscript. FC and EG designed the study. Data collection and analysis were performed by LZ (FloS3GC) and GDM. GDM arranged the figures. LL, PL (FloS3GC) and EG provided care before transplant. DC, SF, MCS, VT (FloS3GC) and EG provided care during and after transplant. GDM and SS provided endocrinological follow-up. SS and EG supervised the work. All authors read and approved the final version of the manuscript.

Corresponding author

Correspondence to Eleonora Gambineri.

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The authors declare no competing interests.

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Consonni, F., Del Medico, G., Florence STAT3 GOF consortium. et al. Growth Failure in STAT3 Gain-of-Function Syndrome Persists After Hematopoietic Stem Cell Transplantation. J Clin Immunol 44, 134 (2024). https://doi.org/10.1007/s10875-024-01727-4

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  • DOI: https://doi.org/10.1007/s10875-024-01727-4

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