Funding transnational collaborative research through joint transnational calls is one of the major objectives of E-Rare. This is the most important and effective joint activity to enhance the cooperation between European scientists working on rare diseases and thus reducing the fragmentation of research in this field. E-Rare launches calls on a yearly basis. The topic and eligibility criteria are specified every year and therefore may vary from one call to the other.

Understanding the WHIM syndrome and search for new therapies: molecular analysis of CXCR4 functions in leukocyte trafficking and activation

Project Coordinator

Instituto Clinico Humanitas, IRCCS - Humanitas Mirasole SpA Adaptive Immunity


Françoise Bachelerie Institut Pasteur Department of Virology Paris, France
Santos Manes Consejo Superior de Investigaciones Cientificas Immunology and Oncolgy Madrid, Spain

Publications of the WHIMPath project

Major results of the project

The WHIM (Warts, Hypogammaglobulinemia, Infections and Myelokathexis) syndrome is a rare human disease characterized by several symptoms, many of which are not clearly understood. Our project set out to study different aspects of the disease, in order to understand the underlying mechanism of pathogenesis. The insight gained should enable the identification of new strategies for rational-­‐based therapeutic intervention.

Using a variety of biological techniques, many of which were developed specifically for our project, our work deciphered several unexplored molecular aspects of the disease. Our experiments have enabled us to put forward a molecular explanation for the recurring infections and hypogammaglobulinemia that characterize the WHIM syndrome. Further, they have provided important insight on how the human papillomavirus (HPV) may induce warts in WHIM patients. These results will now enable further studies, towards potential therapeutic strategies.

E-Rare 2012 - Created by Toussaint Biger