A novel X-linked immune-mediated actinopathy in a boy with anti-NMDA receptor encephalitis and variant in DOCK11 gene

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.