Features include always present findings: Colitis, Lupus anticoagulant, Parotitis, and Hypertelorism and others; and common findings: Increased total B cell count, Liver scarring (fibrosis) (hepatic fibrosis), Hydrops fetalis, and Decreased circulating total IgM and others. 55 total HPO annotations.

LYN encodes LYN proto-oncogene, Src family tyrosine kinase (512 aa). Non-receptor tyrosine-protein kinase that transmits signals from cell surface receptors and plays an important role in the regulation of innate and adaptive immune responses, hematopoiesis, responses to growth factors and cytokines, integrin signaling, but also responses to DNA damage and genotoxic agents. Highest expression in Whole Blood (128.4 TPM) and Cells EBV-transformed lymphocytes (119.3 TPM).

Autoinflammatory disease, systemic, with vasculitis is associated with mutations in the LYN gene on chromosome 8.

LYN is classified as a druggable target (Clinically Actionable, Druggable Genome, Enzyme, Kinase, and Tyrosine Kinase categories) with score 1.3.

Genetic testing for LYN is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autoinflammatory disease, systemic, with vasculitis has been reported in the published literature.

Phenotype severity distribution: 49 always present features, 5 common features.

No clinical trials have been registered for autoinflammatory disease, systemic, with vasculitis.

122 publications have been identified in PubMed for autoinflammatory disease, systemic, with vasculitis. Research spans Review / Meta-Analysis (30%), Case Report / Case Series (24%), and Epidemiology / Natural History (22%).