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hepatic venoocclusive disease with immunodeficiency
Pathology:
- primary immunodeficiency, combined immunodeficiency
- absent lymph node germinal centers
- absent tissue plasma cells
- hepatic vascular occlusion & fibrosis
Genetics:
- autosomal recessive
- associated with defects in SP110
Laboratory:
- serum protein electrophoresis & IFE
- severe hypogammaglobulinemia
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 235550
References
OMIM :accession 235550