Hepatic venoocclusive disease with immunodeficiency

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Hepatic veno-occlusive disease-immunodeficiency syndrome is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease.

Prevalence at birth is 1/2 500 in the Lebanese population, 25 cases having been described in a 30-year period.

Mutations in the gene coding PML nuclear body protein Sp110 were found to be responsible for this association.

Transmission is autosomal recessive.

Mortality reaches 85% if the syndrome remains unrecognised and untreated.

Visit the Orphanet disease page for more resources.

Last updated: 7/1/2006

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