U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Autoinflammation with pulmonary and cutaneous vasculitis

Autoinflammation with pulmonary and cutaneous vasculitis

Summary

Autoinflammation with pulmonary and cutaneous vasculitis (AIPCV) is a disorder of immune dysregulation manifest as skin lesions (petechiae and purpura) appearing soon after birth followed by progressive pulmonary involvement causing restrictive lung disease and respiratory insufficiency. Other features may include hepatosplenomegaly and anemia (Kanderova et al., 2022). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: AIPCV, JTK9, p59Hck, p61Hck, HCK
    Summary: HCK proto-oncogene, Src family tyrosine kinase

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.