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Hepatic veno-occlusive disease-immunodeficiency syndrome

Synonym(s) VODI syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
  • K76.5
MeSH -
MedDRA -


Disease definition

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.

Genetic counseling

Transmission is autosomal recessive.


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

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Detailed information

Clinical genetics review
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