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Omenn syndrome (OS) is a rare monogenic disorder characterised by immunodeficiency associated with autoimmune-like manifestations. Studies of patients with OS have provided fundamental information about how their restricted T and B cell repertoire contributes
In the present project, we will investigate to which extent molecular and cellular alterations in mucosal barriers influence immune phenotype and autoimmune signs in OS. In parallel with murine studies, we plan to evaluate human specimens obtained from patients affected by V(D)J recombination defects associated with autoimmune manifestations.
Overall, the results obtained in this integrated grant will be of general significance, allowing us to provide new insights into the mechanisms controlling immune tolerance in primary immunodeficiencies associated with immunological dysregulation, which will be instrumental to improve current therapeutic approaches and to develop innovative therapeutic strategies in autoimmunity.
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