Hepatic veno-oclussive disease with immunodeficiency syndrome

This 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.

Alternative names

VODI

Hepatic veno-occlusive disease-immunodeficiency

Classification

  • Other well-defined immunodeficiency syndromes

Inheritance

Autosomal recessive

OMIM

*604457 Nuclear body protein sp110; SP110

#235550 Hepatic venooclussive disease with immunodeficiency; VODI

Cross references

Phenotypically related immunodeficiencies

Incidence

1:2,500 live births in the Lebanese population of Sydney, Australia.