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GTR Home > Conditions/Phenotypes > Autoinflammatory disease, systemic, with vasculitis

Autoinflammatory disease, systemic, with vasculitis

Synonyms
LAVLI SYNDROME

Summary

Systemic autoinflammatory disease with vasculitis (SAIDV) is an autosomal dominant disorder that manifests soon after birth with features such as purpuric skin rash, fever, hepatosplenomegaly, and elevated C-reactive protein (CRP; 123260). Laboratory studies may show leukocytosis, thrombocytopenia, and autoantibodies. A subset of patients develop progressive liver involvement that may result in fibrosis. Other systemic features, such as periorbital edema, conjunctivitis, infections, abdominal pain, and arthralgia are usually observed. Mutations occur de novo. De Jesus et al. (2023) referred to this disorder as LAVLI (LYN kinase-associated vasculopathy and liver fibrosis). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: JTK8, SAIDV, p53Lyn, p56Lyn, LYN
    Summary: LYN proto-oncogene, Src family tyrosine kinase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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