Welcome to the AIDA project

Autoinflammatory diseases (AIDs) represent a group of new and old clinical entities characterized by deregulation of innate immune system leading to inflammatory manifestations potentially involving all tissues and organs, in absence of infections, neoplasms or evidences of autoimmune diseases.

Monogenic AIDs including familial Mediterranean fever (FMF), tumor necrosis factor associated periodic syndrome (TRAPS), cryopyrin associated periodic syndromes (CAPS), mevalonate kinase deficiency (MKD) and Blau/Early Onset Sarcoidosis, have been the first diseases recognized as associated to innate immune disorders. Increasing knowledge about pathogenic mechanisms inducing inflammatory manifestations in monogenic AIDs, several disorders previously classified in different contexts have been included under the umbrella of AIDs and reclassified as polygenic multifactorial autoinflammatory disorders, such as Behçet’s disease, systemic onset juvenile idiopathic arthritis (sJIA), adult onset Still’s disease (AOSD), periodic fever, aphthous stomatitis, pharyngitis, cercal adenitis (PFAPA) syndrome, Schnitzler’s syndrome, chronic recurrent multifocal osteomyelitis (CRMO), gouty arthritis and many others.

Many of these disorders are rare conditions previously relegated to the pediatric world. Although thinking about adult-onset manifestations is no longer a novelty at present, demographic clinical and treatment data from a sufficiently wide cohort of adult patients are currently lacking as well as comparisons between pediatric and adult patients and modifications of disease features over time. Indeed, gathering information on rare conditions is made difficult by the small number of patients along with the difficulty of obtaining an accurate diagnosis in non-specialised clinical settings. Regarding adult-onset AIDs, the lack of data is made even more evident by the most recent identification of this subgroup of patients.

In this context, the AIDA project was born to promote the development of a permanent on-line multicentre network aimed at collecting demographic, genetic, clinical and therapeutic data from patients diagnosed with AIDs in order to get solid information on the behaviour of such diseases.

The more frequent monogenic AIDs (FMF, TRAPS, CAPS, MVK, Blau syndrome/Early Onset Sarcoidosis) along with Behçet’s disease, Still’s disease, PFAPA syndrome, Schnitzler disease, CRMO, non-infectious uveitis and non-infectious scleritis are the first diseases included in the AIDA project. However, more disorders could be included in the future, even with your help, participation and sharing of ideas and enthusiasm.

Participants will be asked to insert demographic, genetic, clinical, therapeutic and socioeconomic data from patients with AIDs in order to meet the following ambitious objectives of AIDA project:
  • to overcome the fragmentation of clinical experience about these rare conditions by sharing knowledge accumulated by the very few tertiary Centres dealing with monogenic and polygenic AIDs;
  • to improve knowledge about clinical presentation, genotype-phenotype correlations, response to treatment, long-term complications and social impact when monogenic and polygenic AIDs manifest during adulthood comparing data with pediatric counterpart;
  • to identify the long-term clinical course of patients diagnosed with monogenic or polygenic AIDs by highlighting any modification in terms of disease activity, clinical manifestations and response to treatments;
  • to identify the impact of different treatment approaches on clinical and laboratory disease manifestations;
  • to promote awareness among physicians and enhance early recognition of these diseases;
  • to identify any impact of monogenic and polygenic AIDs on fertility, course of pregnancy and peripartum;
  • to assess the socioeconomic impact of AIDs and the role of treatments in reducing work and school absenteeism and decreasing the access rate to emergency and general practitioner facilities;
  • to describe the impact of AIDs on the quality of life;
  • to promote future multicentric studies.
So that all this can be achieved, the widest possible participation by all those involved in the management of monogenic and polygenic AIDs is desirable to create a strong and effective AutoInflammatory Disease Alliance network. For this reason, you are strongly encouraged to participate to our project in order to give an important boost towards a better and effective knowledge of these disorders.