The problems of undifferentiated autoinflammatory diseases
https://doi.org/10.47360/1995-4484-2026-5-11
Abstract
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.
About the Authors
E. L. Nasonov
V.A. Nasonova Research Institute of Rheumatology
Russian Federation
Competing Interests:
Russian Federation
Evgeny L. Nasonov
115522, Moscow, Kashirskoye Highway, 34A
Competing Interests:
None
M. F. Beketova
V.A. Nasonova Research Institute of Rheumatology
Russian Federation
Competing Interests:
Russian Federation
Mariia F. Beketova
115522, Moscow, Kashirskoye Highway, 34A
Competing Interests:
None
S. O. Salugina
V.A. Nasonova Research Institute of Rheumatology
Russian Federation
Competing Interests:
Russian Federation
Svetlana O. Salugina
115522, Moscow, Kashirskoye Highway, 34A
Competing Interests:
None
E. S. Fedorov
V.A. Nasonova Research Institute of Rheumatology
Russian Federation
Competing Interests:
Russian Federation
Evgeny S. Fedorov
115522, Moscow, Kashirskoye Highway, 34A
Competing Interests:
None
E. Yu. Zakharova
Research Centre for Medical Genetics
Russian Federation
Competing Interests:
Russian Federation
Ekaterina Yu. Zakharova
115478, Moscow, Moskvorechye str., 1
Competing Interests:
None
A. M. Lila
V.A. Nasonova Research Institute of Rheumatology ; Russian Medical Academy of Continuing Professional Education, Ministry of Health of Russia
Russian Federation
Competing Interests:
Russian Federation
Aleksander M. Lila
115522, Moscow, Kashirskoye Highway, 34A
125993, Moscow, Barrikadnaya str., 2/1, building 1
Competing Interests:
None
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For citations:
Nasonov E.L., Beketova M.F., Salugina S.O., Fedorov E.S., Zakharova E.Yu., Lila A.M. The problems of undifferentiated autoinflammatory diseases. Rheumatology Science and Practice. 2026;64(1):5-11. (In Russ.) https://doi.org/10.47360/1995-4484-2026-5-11
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