Behcet-like familial autoinflammatory syndrome
https://doi.org/10.21508/1027-4065-2021-66-2-110-115
Abstract
Behcet-like familial autoinflammatory syndrome is a rare autoinflammatory disease with an autosomal dominant mode of inheritance, which is based on heterozygous mutations in the TNFAIP3 gene. It is characterized by recurrent fever, recurrent oral-genital ulcers. Currently, only few patients with this disease are described in the world literature. The clinical case presented in the article demonstrates a new mixed phenotype of pathology in the form of a combination of symptoms resembling Behcet’s disease and autoimmune lymphoproliferative syndrome. It allows us to enrich our knowledge about the genetic nature of autoinflammatory familial Behcet-like syndrome, and indicates the need to more active use of molecular genetic research methods in the differential diagnosis of these diseases.
About the Authors
E. A. Potrokhova
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Moscow
L. S. Baleva
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Moscow
A. E. Sipyagina
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Moscow
E. N. Yakusheva
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Moscow
M. P. Safonova
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Moscow
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Review
For citations:
Potrokhova E.A., Baleva L.S., Sipyagina A.E., Yakusheva E.N., Safonova M.P. Behcet-like familial autoinflammatory syndrome. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2021;66(2):110-115. (In Russ.) https://doi.org/10.21508/1027-4065-2021-66-2-110-115
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