The problems of undifferentiated autoinflammatory diseases

Despite the progress of molecular genetic testing, the diagnostic issues of monogenic autoinflammatory diseases (AIDs) remain largely unresolved. It’s associated with a heterogeneous clinical picture and problems in interpreting the results of molecular genetic testing. A significant group of patients are classified as recently identified undifferentiated AIDs, which characterized by the presence of clinical signs of monogenic AIDs and negative or inconclusive result of molecular genetic testing. In recent years, the problem of undifferentiated AIDs or SURF (syndrome of undefined recurrent fevers) has been considered within the framework of the concept of genetically transitional disease. It was discussed that undifferentiated AIDs with genetic variants of uncertain significance should be distinguished into a special subtype. Further study of such cohorts is needed to identify significant biomarkers and find therapeutic targets.