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Common variable immunodeficiency (CVID), a frequent primary immunodeficiency disease, is characterized, by defects involving T and B cells. The Aiolos transcription factor plays an important role in the control of B cell differ- entiation and proliferation and is modulated through alternative splicing. In order to assess the role of Aiolos in this hu- man pathology, we analyzed the Aiolos isoforms distribution and expression. We demonstrated that the major Aiolos iso- form expressed in PBMC's of healthy donors and CVID patients is hAio1, whereas the rest of the Aiolos isoforms showed homogenous distribution. In addition, we detected three new Aiolos isoforms in CVID patients that were non-detectable in healthy donors. Furthermore, we quantified Aiolos expression in T and B cells from CVID patients, given that both cell populations are altered in this pathology. Our results show an up-regulation of Aiolos expression in T and B cells from CVID patients compared to healthy donors that was confirmed at the protein level. Finally, we show a different cellular distribution of Aiolos in CVID patients compared to that found in healthy donors. |
