Publications by authors named "Robin Kechiche"
Article Synopsis
- UNC93B1 is a protein involved in signaling for Toll-like receptors, which are important for the immune response.
- Mutations in UNC93B1 (I317M, G325C, L330R, R466S, and R525P) have been linked to conditions like systemic lupus erythematosus (SLE) and chilblain lupus (CBL), exhibiting both autosomal dominant and recessive inheritance patterns.
- Different mutations impact the activity of TLR7 and TLR8 differently, suggesting that specific mutations in UNC93B1 lead to varying disease mechanisms for SLE and CBL.
Article Synopsis
- TLR7 plays a crucial role in detecting both viral and self-derived ssRNA, influencing the body's immune response.
- Two novel mutations, F507S and L528I, in the TLR7 gene are linked to severe autoimmune conditions, with F507S occurring in a family and potentially affecting male subjects despite the gene being on the X chromosome.
- These mutations highlight the importance of TLR7's dimerization in immune regulation and suggest that TLR7-related conditions may encompass a wider range of symptoms, including neurological issues.
Introduction: Multisystem inflammatory syndrome in children (MIS-C) is a new condition that first appeared in children and adolescents during the COVID-19 pandemic. We aimed to describe the diagnostic course, clinical and biological manifestations, and treatment of MIS-C during the first three COVID-19 waves.
Methods: We extracted patient data from the Juvenile Inflammatory Rheumatism (JIR) cohort.