Autoinflammatory diseases (AID) are clinical entities characterized by recurrent inflammatory attacks in absence of infection, neoplasm or deregulation of the adaptive immune system. Among them, hereditary periodic syndromes, also known as monogenic AID, represent the prototype of this disease group, caused by mutations in genes involved in the regulation of innate immunity, inflammation and cell death. Based on recent experimental acquisitions in the field of monogenic AID, several immunologic disorders have been reclassified as polygenic/multifactorial AID, sharing pathogenetic and clinical features with hereditary periodic fevers. This has paved the way to new treatment targets for patients suffering from rare diseases of unknown origin, including Behçet's disease, Still disease, Schnitzler's disease, PFAPA (periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis) syndrome, chronic recurrent multifocal osteomyelitis (CRMO), non-infectious uveitis and scleritis. Gathering information on such rare conditions is made difficult by the small number of patients, along with the difficulty of obtaining an accurate diagnosis in non-specialized clinical settings.
In this context, the AIDA project promotes international collaboration among clinical centres to develop a permanent registry aimed at collecting demographic, genetic, clinical and therapeutic data of patients affected by monogenic and polygenic AID, in order to expand the current knowledge of these rare conditions.
to be diagnosed with a monogenic AID according to the clinical phenotype and the detection of a confirmative genotype;
to be diagnosed with clinical familial Mediterranean fever or Behçet's disease or Still disease or PFAPA syndrome or Schnitzler's disease or CRMO according to the corresponding clinical diagnostic and/or classification criteria;
to be diagnosed with undifferentiated systemic AID;
to be diagnosed with non-infectious uveitis according to the standardization for uveitis nomenclature (SUN) criteria;
None
Patients consecutively diagnosed and treated at the hospitals/ research centres affiliated to the AIDA Network (https://aidanetwork.org/en/)
Cohort
Other
No intervention is foreseen by the protocol.
Other interventionPatients will be observed for 10 years at least. Demographic, genetic, clinical, clinimetric, laboratory, radiologic and therapeutic data will be collected both retrospectively and prospectively during routine follow-up visits.
Change of the number of enrolled subjects
This is an observational registry. The primary outcome is the increase of the number of subjects enrolled within each nosologic group.
Change in the disease activity score
Change in the disease activity score specific for the nosologic entity (BDCAF score, Pouchot score, modified Pouchot score, JADAS27/JADAS27(CRP), DAS28) or according to composite indexes that will be defined in each study based on the registry.
Change in the % of patients with new organ involvement
Incidence of death or adverse events
Change in the inflammatory markers values (ESR)
ESR measured in mm/h
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