Don’t fight Hepatic venoocclusive disease with immunodeficiency alone.Find your community on the free RareGuru App.
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 79124
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.
Source: GARD Last updated on 05-01-20
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!