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  • Syndrome that is characterised by the association of severe hypogammaglobulinaemia, combined T and B cell immunodeficiency, absent lymph node germinal centres, absent tissue plasma cells and hepatic veno-occlusive disease. Mutations in the gene coding PML nuclear body protein Sp110 on chromosome 2q37 were found to be responsible for this association. Transmission is autosomal recessive.
  • Syndrome that 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. Mutations in the gene coding PML nuclear body protein Sp110 on chromosome 2q37 were found to be responsible for this association. Transmission is autosomal recessive.
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