hepatic venoocclusive disease with immunodeficiency

Pathology

• primary immunodeficiency, combined immunodeficiency
• absent lymph node germinal centers
• absent tissue plasma cells
• hepatic vascular occlusion & fibrosis

Genetics

• autosomal recessive
• associated with defects in SP110

Laboratory

• serum protein electrophoresis & IFE
  • severe hypogammaglobulinemia

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/235550