Condition: Hepatic venoocclusive disease with immunodeficiency


rs199845488 in SP110;SP140 gene and Hepatic venoocclusive disease with immunodeficiency PMID 16648851 2006 Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.

PMID 22621957 2012 Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome.