Hepatic veno-occlusive disease with immunodeficiency
Autozomálně recesivní
A combined immune deficiency with low antibody levels and liver vein blockage, leading to severe infections and liver failure if untreated.
Co se diagnózou změní
Early antibody replacement therapy and preventive treatment against Pneumocystis infection can be life-saving.
Analyzované geny
Známé také jako
familial veno-occlusive disease with immunodeficiency; hepatic venoocclusive disease with immunodeficiency; veno-occlusive disease and immunodeficiency syndrome; VODI; VODI syndrome
