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.

单词	hepatic veno-occlusive disease with immunodeficiency
释义	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.
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