The Open Immunology Journal

2009, 2 : 52-58
Published online 2009 March 13. DOI: 10.2174/1874226200902010052
Publisher ID: TOIJ-2-52

Deregulated Aiolos Expression in Common Variable Immunodeficiency

Katy Billot , Issam Arrouss , Gisela Garcia-Alvarez , Eric Oksenhendler , Gael Mouillot , Patrice Debre and Angelita Rebollo
Immunologie Cellulaire et Tissulaire, Hôpital Pitié-Salpêtrière/Université Pierre et Marie Curie/ Inserm U543, 83, Bd de l’hôpital 75013 Paris, France.

ABSTRACT

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 differentiation and proliferation and is modulated through alternative splicing. In order to assess the role of Aiolos in this human pathology, we analyzed the Aiolos isoforms distribution and expression. We demonstrated that the major Aiolos isoform 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.

Keywords:

Common variable immunodeficiency, Aiolos, Transcription factor.