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Molecular basis of immune deficiency in Wolf-Hirschhorn Syndrome (4p-)

18th national competition for scientific and technical research

Rare diseases

Senior Researcher : César Cobaleda Hernández

Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid


Wolf-Hirschhorn Syndrome (WHS) is a complex disease, and susceptibility to infections is one of its main complications. Immunodeficiencies are a large group of diseases that can have very serious consequences for those affected, by weakening their defenses against pathogens and tumor cells. The results obtained in this project have shown that the Whsc1 gene is one of the main responsible for the immunodeficiencies suffered by WHS patients. Indeed, our data show that Whsc1 plays an important role in the specification, development and function of B lymphocytes, participating in various molecular processes at the different stages of lymphoid differentiation (Campos-Sánchez et al., Cell Reports 2017).

Similarly, hematopoietic stem cells need Whsc1 to maintain their ability to reconstitute the blood cellular system. The fact that other cell types, such as embryonic fibroblasts, also present alterations in the absence of Whsc1, indicates that this gene plays essential roles in several biological functions. Our results contribute to support the idea that epigenetic alterations (and not only mutations) can be responsible for primary immunodeficiencies, which in principle are supposed to be caused by congenital genetic alterations, (Campos-Sanchez et al., Trends in Immunology 2017; Martinez -Cano et al., Front. Cell. Dev. Biol. 2019).

This possibility would also imply that environmental factors may participate in primary immunodeficiencies by modifying the epigenome, thus blurring the distinction that is currently established between primary and secondary (caused by exposure to different environmental factors) immunodeficiencies. These results highlight the importance of understanding how environmental factors can act at an epigenetic level on the immune system, triggering or modifying the evolution of immunodeficiencies and other hematopoietic alterations.


Scientific Production
Magazine Articles 4
Communications at national conferences -
Communications at international conferences -


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