hepatic venoocclusive disease with immunodeficiency

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 heteroz

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.

Signs and symptoms

• Microcephaly
• Abnormality of the liver
• Absence of lymph node germinal center
• Endocardial fibrosis
• Immunodeficiency
• Decreased circulating IgG concentration

Also known as: VODI; hepatic veno-occlusive disease-immunodeficiency syndrome