Veno-occlusive disease with immunodeficiency
Related gene: SP110
Inheritance pattern: Autosomal recessive
Hepatic veno-occlusive disease with immunodeficiency (VODI) is an extremely rare form of immunodeficiency inherited in an autosomal recessive fashion with impairment of both T cells and B cells. VODI results from variants in the SP110 gene. Patients with VODI have a predisposition to fungal infections such as Pneumocystis jiroveci. Patients may also have thrombocytopenia (low platelet counts) and enlarged livers. Immunoglobulin (Ig) replacement therapy and Pneumocystis jiroveci prophylaxis as soon as the diagnosis of VODI is established is important. Liver transplantation is sometimes considered, but the rate of complications may be high.
