hepatic venoocclusive disease with immunodeficiency

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hepatic venoocclusive disease with immunodeficiency2016-12-25T03:23:07+00:00

hepatic venoocclusive disease with immunodeficiency

IMMUNOLOGY 

An autosomal recessive immunodeficiency (OMIM:235550) characterised by severe hypogammaglobulinaemia, combined T and B cell immunodeficiency, absent germinal centres, no plasma cells in peripheral tissue, hepatic vascular occlusion and fibrosis

Molecular pathology Defects of SP110, which encodes a transcription factor thought to play a role in ribosome formation and in induction of myeloid cell differentiation, cause hepatic venoocclusive disease with immunodeficiency.

References http://www.uniprot.org/uniprot/Q9HB58
http://www.omim.org/entry/235550

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