Diagnosis and treatment of patients with undefined autoinflammatory diseases

Sterile inflammation characterizes a heterogeneous group of primary immunodeficiency disorders named autoinflammatory diseases (AID). Less than 30% of AID patients are molecularly defined. To increase the diagnostic rate and treatment outcome in patients with undefined AID, "omics" technologies, as the next-generation sequencing and mass spectrometry, and clinical data registries analysis are applied. During the last three years, I described patients with undefined and known rare AID (i.e. RAS-associated autoimmune leukoproliferative disease and SAMD9L-associated AID), the first 100 genes and related pathways associated with AID, the actin-related AID, the syndrome of undifferentiated recurrent fever (SURF) and the proteomic signature of monocytes in hereditary recurrent fever. Furthermore, I analyzed the efficacy of the interleukin 1 inhibitors in systemic juvenile idiopathic arthritis, cryopyrin associated periodic syndrome and refractory hyperferritinemic syndromes. Finally, I developed a metadata registry called MeRITA in order to increase the interoperability and data sharing among clinical registries of the European Reference Network on Rare Immunological Disorders (ERN-RITA).