Publications by authors named "Fraser J H Sutherland"
J Clin Immunol
August 2024
Article Synopsis
- Hereditary C1q deficiency (C1QDef) is a rare genetic disorder that disrupts the complement system and can cause symptoms similar to systemic lupus erythematosus (SLE).
- A study of 12 genetically confirmed C1QDef patients showed elevated expression of interferon-stimulated genes and high levels of interferon alpha in their blood and cerebrospinal fluid, indicating significant immune dysfunction.
- Treatment with Janus-kinase inhibitors had mixed results, with one patient improving while others continued to struggle with their condition, highlighting the complexity of managing C1QDef.
