Skip to main content
IDF logo

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.

Read the latest research

Other primary cellular immunodeficiencies 

Some patients with less common cellular immunodeficiencies may have severe immunodeficiency with early onset and significant morbidity and mortality, while others have only mild problems. Patients with these types of deficiencies have some defect in their T cell (cellular) immune system, resulting in a different spectrum of infection problems than those individuals with typical antibody deficiency. These include deep-seated bacterial infections, viral and fungal infections, tuberculosis, and other mycobacterial infections. Cellular immunodeficiencies are usually more difficult to treat and may need cellular reconstitution via hematopoietic stem cell transplantation or, perhaps, gene therapy.

This page contains general medical and/or legal information that cannot be applied safely to any individual case. Medical and/or legal knowledge and practice can change rapidly. Therefore, this page should not be used as a substitute for professional medical and/or legal advice.

Adapted from the IDF Patient & Family Handbook for Primary Immunodeficiency Diseases, Sixth Edition 
Copyright ©2019 by Immune Deficiency Foundation, USA