Data Availability
Data are available upon request to the corresponding author.
References
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.
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.
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.
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.
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.
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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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.
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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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DOI: https://doi.org/10.1007/s10875-024-01689-7