DOCK8 Mutation in Patient with Juvenile Idiopathic Arthritis and Sjogren's Syndrome.

ABSTRACT: This study investigated the association between autoimmunity and immunodeficiency in pediatric patients, focusing on the case of a 15-year-old female diagnosed with juvenile idiopathic arthritis (JIA) and secondary Sjögren's syndrome. The patient presented with a variety of symptoms, including joint pain, bronchial asthma, leukopenia, and skin lesions. Genetic testing revealed a de novo mutation in the DOCK8 gene, associated with DOCK8 deficiency, a condition usually associated with immunodeficiencies. The clinical course, diagnostic pathway, and treatment history are detailed, highlighting the importance of molecular diagnostics in understanding the genetic basis of rheumatic diseases. This case highlights the need to consider innate immune errors in patients with multiple d

SUBMITTER: Opoka-Winiarska V 

PROVIDER: S-EPMC10888949 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature