Veno-Occlusive Disease with Immunodeficiency (VODI) is a primary immunodeficiency presenting early in life that is associated with veno-occlusive disease of the liver.
Chromosome: 2q37.1
Gene: SP110 nuclear body protein (impacts gene transcription)
Inheritance: autosomal recessive, with complete penetrance
Onset during infancy (usually less than 6 months)
The disease is usually fatal during infancy if the patient is not appropriately treated (IVIG, etc).
Clinical features:
(1) recurrent opportunistic infections (bacterial, mucocutaneous Candidiasis, Pneumocystis jirovecii, CMV, enterovirus, others
(2) hepatomegaly with evidence of hepatic veno-occlusive disease (sinusoidal obstruction syndrome) with fibrous concentric narrowing of Zone 3 terminal hepatic venules, centrilobular hepatocyte necrosis and sinusoidal congestion
(3) variable neurologic problems
Laboratory findings:
(1) hypogammaglobulinemia (IgA, IgG, IgM)
(2) normal T and B cell lymphocyte counts in the peripheral blood
Other findings:
(1) low intracellular cytokine production
(2) absent lymph node germinal centers
(3) absent tissue plasma cells
Avoid substances that predispose to hVOD such as cyclophosphamide.
