hepatic veno-occlusive disease with immunodeficiency

hepatic veno-occlusive disease with immunodeficiency

An autosomal recessive immune deficiency (OMIM:235550) characterised by severe hypogammaglobulinaemia, combined T- and B-cell immune deficiency, absent lymph node germinal centres, and absent tissue plasma cells; it is associated with hepatic vascular occlusion and fibrosis. 

Molecular pathology
Caused by defects of SB110, which encodes a transcription factor thought to play a role in ribosome formation and in induction of myeloid cell differentiation.