ALPS

Autoimmune lymphoproliferative syndrome (ALPS) is genetic disorder that causes lymphocytes (white blood cells) to survive after an infection. This is caused by a defective FAS mediated apoptosis (programmed cell death).

This defective apoptosis can cause an enlarged spleen and proliferation of abnormally large lymph nodes. In some cases the liver can be enlarged as well.

Cortisone is usually the first treatment when proliferation has exceeded accepted levels. However, this is a toxic treatment and should not be used chronicially. The cortisone treatment is usually followed by a immunosuppressiva like cellcept or rapamycine.

The disorder can lead to autoimmune diseases, the most common ones being cytopenias (reduced mature blood cells). An other result of the disorder is the increased risk of developing a Hodgkin or non-Hodgking lymphoma.

Biomarkers

• B12 -- Elevated levels can indicate increased lymphocyte expression of holo-haptocorrin (HC).

• HDL -- Reduced levels van indicate an increased levels of IL-10, an anti-inflammatory cytokine

• CD3, CD4 & CD8 -- Double Negative T Cells, an abnormal cell population which usually isn't detectable