hepatic venoocclusive disease with immunodeficiency

Term ID

DOID:0112254

Synonyms

• hepatic veno-occlusive disease-immunodeficiency syndrome
• VODI

Definition

A syndrome characterized by severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells, hepatic vascular occlusion, and fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in the SP110 gene on chromosome 2q37.1. (2)

References

• GARD:10083
• MESH:C537257
• MIM:235550
• ORDO:79124

Ontology

Human Disease   ( DOID:0112254 )