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Hepatic veno-occlusive disease-immunodeficiency syndrome

ORPHA79124
Synonym(s) VODI syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
ICD-10
  • K76.5
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Disease 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.

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Detailed information

Clinical genetics review
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