Hepatic veno-occlusive disease with immunodeficiency
Autoszomális recesszív
A combined immune deficiency with low antibody levels and liver vein blockage, leading to severe infections and liver failure if untreated.
Mit változtat a diagnózis
Early antibody replacement therapy and preventive treatment against Pneumocystis infection can be life-saving.
Vizsgált gének
Más néven
familial veno-occlusive disease with immunodeficiency; hepatic venoocclusive disease with immunodeficiency; veno-occlusive disease and immunodeficiency syndrome; VODI; VODI syndrome
