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Hepatic veno-occlusive disease-immunodeficiency syndrome
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.
ORPHA:79124Classification level: Disorder
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.
- Clinical genetics review
- English (2017)