Abstract
Background
Patients with partial DiGeorge syndrome (pDGS) can present with immune dysregulation, the most common being autoimmune cytopenia (AIC). There is a lack of consensus on the approach to type, combination, and timing of therapies for AIC in pDGS. Recognition of immune dysregulation early in pDGS clinical course may help individualize treatment and prevent adverse outcomes from chronic immune dysregulation.
Objectives
Objectives of this study were to characterize the natural history, immune phenotype, and biomarkers in pDGS with AIC.
Methods
Data on clinical presentation, disease severity, immunological phenotype, treatment selection, and response for patients with pDGS with AIC were collected via retrospective chart review. Flow cytometric analysis was done to assess T and B cell subsets, including biomarkers of immune dysregulation.
Results
Twenty-nine patients with the diagnosis of pDGS and AIC were identified from 5 international institutions. Nineteen (62%) patients developed Evan’s syndrome (ES) during their clinical course and twenty (69%) had antibody deficiency syndrome. These patients demonstrated expansion in T follicular helper cells, CD19hiCD21lo B cells, and double negative cells and reduction in CD4 naïve T cells and regulatory T cells. First-line treatment for 17/29 (59%) included corticosteroids and/or high-dose immunoglobulin replacement therapy. Other overlapping therapies included eltrombopag, rituximab, and T cell immunomodulators.
Conclusions
AIC in pDGS is often refractory to conventional AIC treatment paradigms. Biomarkers may have utility for correlation with disease state and potentially even response to therapy. Immunomodulating therapies could be initiated early based on early immune phenotyping and biomarkers before the disease develops or significantly worsens.
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Data Availability
All data and material are organized into databases and available.
Change history
29 February 2024
A Correction to this paper has been published: https://doi.org/10.1007/s10875-024-01677-x
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Acknowledgements
The authors would like to acknowledge Dr. Joseph F. Dasso for his contributions to the manuscript.
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The authors received funding from the Johns Hopkins All Children’s Foundation.
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Patel, P.K., Chinga, M.L., Yilmaz, M. et al. Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers. J Clin Immunol 44, 42 (2024). https://doi.org/10.1007/s10875-023-01607-3
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DOI: https://doi.org/10.1007/s10875-023-01607-3