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Inflammatory Proteomic Analysis of 22q11.2 Deletion Syndrome

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Fig. 1

Data Availability

Data are available upon request to the corresponding author.

References

  1. Montin D, Marolda A, Licciardi F, Robasto F, Di Cesare S, Ricotti E, et al. Immunophenotype anomalies predict the development of autoimmune cytopenia in 22q11.2 deletion syndrome. J Allergy Clin Immunol Pract. 2019;7(7):2369–76.

    Article  CAS  PubMed  Google Scholar 

  2. Crowley TB, Campbell IM, Liebling EJ, Lambert MP, Levitt Katz LE, Heimall J, et al. Distinct immune trajectories in patients with chromosome 22q11.2 deletion syndrome and immune-mediated diseases. J Allergy Clin Immunol. 2022;149(1):445–50.

    Article  CAS  PubMed  Google Scholar 

  3. Zemble R, LuningPrak E, McDonald K, McDonald-McGinn D, Zackai E, Sullivan K. Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin Immunol. 2010;136(3):409–18.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Yirmiya ET, Mekori-Domachevsky E, Weinberger R, Taler M, Carmel M, Gothelf D. Exploring the potential association among sleep disturbances, cognitive impairments, and immune activation in 22q11.2 deletion syndrome. Am J Med Genet A. 2020;182(3):461–8.

    Article  CAS  PubMed  Google Scholar 

  5. Zhang Z, Shi L, Song L, Maurer K, Zhao X, Zackai EH, et al. Chromatin modifications in 22q11.2 deletion syndrome. J Clin Immunol. 2021;41(8):1853–64.

    Article  PubMed  Google Scholar 

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Acknowledgements

The authors gratefully acknowledge the contributions and enthusiasm of the patients. We also want to recognize the many study coordinators, volunteers, and students who assisted in various ways. In addition, Raquel Gur provided outstanding clinical analysis of patient mental health. Caroline Diorio and Zachary Martinez provided expert guidance on the Olink instrument and Olink analytic methods. Blaine Crowley provided skilled study support.

Funding

This study was supported by the Uytengsu-Hamilton 22q11 Neuropsychiatry Research Program.

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Contributions

VF analyzed data and wrote a draft of the manuscript. KM and KES further analyzed data and KES wrote additional material and edited the final version. BE and DMM analyzed clinical information, provided clinical details, and were central to patient recruitment. All authors reviewed the manuscript.

Corresponding author

Correspondence to Kathleen E. Sullivan.

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The authors declare no competing interests.

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Frusone, V., Maurer, K., Emanuel, B.S. et al. Inflammatory Proteomic Analysis of 22q11.2 Deletion Syndrome. J Clin Immunol 44, 82 (2024). https://doi.org/10.1007/s10875-024-01689-7

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