A novel X-linked immune-mediated actinopathy in a boy with anti-NMDA receptor encephalitis and variant in DOCK11 gene
T. V. Kozhanova,
S. S. Zhylina,
T. I. Meshcheryakova,
A. A. Abramov,
M. M. Abidova,
T. S. Kaminskaya,
A. I. Krapivkin,
N. N. Zavadenko https://doi.org/10.17749/2077-8333/epi.par.con.2025.230
Abstract
Pediatric encephalitis is a group of diseases characterized by brain disease, fever, seizures, cerebrospinal fluid pleocytosis and neuroradiological changes. Dedicator of cytokinesis proteins (DOCK) family proteins are of primary importance in actin cytoskeleton regulation. DOCK11 plays a crucial role in human immune diseases. In this paper, we describe a clinical case of anti-N-methyl-D-aspartate receptor encephalitis in a boy with a hemizygous variant in DOCK11 gene. DOCK11 deficiency is a new X-linked immunerelated actinopathy leading to impaired cell division cycle 42 (CDC42) activity and signal transducer and activator of transcription 5 (STAT5) activation. It is associated with abnormal actin cytoskeleton remodeling as well as regulatory T cell phenotype, culminating in immune dysregulation and severe early-onset autoimmunity.
About the Authors
T. V. Kozhanova
Voyno-Yasenetsky Scientific and Practical Center of Specialized Medical Care for Children;
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Tatyana V. Kozhanova, PhD, Assoc. Prof.
38 Aviators Str., Moscow 119620;
1 bldg 6 Ostrovityanov Str., Moscow 117513
S. S. Zhylina
Voyno-Yasenetsky Scientific and Practical Center of Specialized Medical Care for Children;
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Svetlana S. Zhylina, PhD, Assoc. Prof.
38 Aviators Str., Moscow 119620;
1 bldg 6 Ostrovityanov Str., Moscow 117513
T. I. Meshcheryakova
Voyno-Yasenetsky Scientific and Practical Center of Specialized Medical Care for Children;
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Tatiana I. Meshcheryakova, PhD, Assoc. Prof.
38 Aviators Str., Moscow 119620;
1 bldg 6 Ostrovityanov Str., Moscow 117513
A. A. Abramov
Voyno-Yasenetsky Scientific and Practical Center of Specialized Medical Care for Children
Russian Federation
Russian Federation
Aleksandr A. Abramov
38 Aviators Str., Moscow 119620
M. M. Abidova
Voyno-Yasenetsky Scientific and Practical Center of Specialized Medical Care for Children
Russian Federation
Russian Federation
Maya M. Abidova
38 Aviators Str., Moscow 119620
T. S. Kaminskaya
Voyno-Yasenetsky Scientific and Practical Center of Specialized Medical Care for Children
Russian Federation
Russian Federation
Tatiana S. Kaminskaya, PhD
38 Aviators Str., Moscow 119620
A. I. Krapivkin
Voyno-Yasenetsky Scientific and Practical Center of Specialized Medical Care for Children
Russian Federation
Russian Federation
Alexey I. Krapivkin, Dr. Sci. Med.
38 Aviators Str., Moscow 119620
N. N. Zavadenko
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Nikolay N. Zavadenko, Dr. Sci. Med., Prof.
1 bldg 6 Ostrovityanov Str., Moscow 117513
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For citations:
Kozhanova T.V., Zhylina S.S., Meshcheryakova T.I., Abramov A.A., Abidova M.M., Kaminskaya T.S., Krapivkin A.I., Zavadenko N.N. A novel X-linked immune-mediated actinopathy in a boy with anti-NMDA receptor encephalitis and variant in DOCK11 gene. Epilepsy and paroxysmal conditions. 2025;17(2):170-181. (In Russ.) https://doi.org/10.17749/2077-8333/epi.par.con.2025.230
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