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Case Report: Hidden B-cell dysregulation in MIRAGE syndrome
Shulan Zhang1, Feng Liu1, Xia Huang1
1Department of Respiratory Medicine, Children's Hospital of Nanjing Medical University, Nanjing, China.
Aim:
To characterize the immune and molecular abnormalities underlying MIRAGE syndrome by profiling peripheral blood transcriptomes and assessing immune cell composition and function in affected patients.
Methods:
We performed RNA sequencing on peripheral whole-blood samples collected from identical twins diagnosed with MIRAGE syndrome and their healthy parents. Bulk RNA-seq data were subsequently deconvoluted to assess the composition, state, and functional characteristics of immune cell populations.
Results:
Differentially expressed genes between patients and healthy parents were significantly enriched in the PI3K-Akt signaling pathway, B-cell receptor signaling pathway, and primary immunodeficiency-related pathways. Patients exhibited reduced proportions of memory and naïve B cells, accompanied by increased proportions of CD8 T cells and M2 macrophages. We further identified the top 10 hub genes, which showed moderate to strong correlations with B-cell differentiation, proliferation, and activation.
Conclusion:
Immune cell dysregulation is evident in patients with MIRAGE syndrome, with B-cell abnormalities representing a prominent immunological feature.
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