Deregulated Aiolos Expression in Common Variable Immunodeficiency

Katy Billot1, Issam Arrouss2, Gisela Garcia-Alvarez3, Eric Oksenhendler3, Gael Mouillot1, Patrice Debre1, Angelita Rebollo*, 1
1 Immunologie Cellulaire et Tissulaire, HÔpital Pitié-Salpêtrière/Universitè Pierre et Marie Curie/ Inserm U543, 83, Bd de l’hÔpital 75013 Paris, France
2 Groupe Myologie, INSERM U787 UPMC-Paris VI, Faculté de Médecine Pitié-Salpêtrière, 105 bd de l'Hôpital, 75634 Paris Cedex 13, France
3 Département d’Immunologie Clinique, Hôpital Saint-Louis, 1 Avenue Claude Vellefaux, 75010 Paris, France and DE-FI Study Group

© 2009 Billot et al.;

open-access license: This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 International Public License (CC-BY 4.0), a copy of which is available at: This license permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

* Address correspondence to this author at the HÔpital Pitié-Salpêtrière, Inserm U543, 83, Bâtiment CERVI, 83, Bd de l’hôpital 75013 Paris, France ; Tel: 33-142177527; Fax: 33-142177490;; E-mail:


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.