Hepatic venoocclusive disease with immunodeficiency
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 79124
Definition
Hepatic veno-occlusive disease-immunodeficiency syndrome is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease.
Epidemiology
Prevalence at birth is 1/2 500 in the Lebanese population, 25 cases having been described in a 30-year period.
Etiology
Mutations in the gene coding PML nuclear body protein Sp110 were found to be responsible for this association.
Genetic counseling
Transmission is autosomal recessive.
Prognosis
Mortality reaches 85% if the syndrome remains unrecognised and untreated.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
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