The expanding spectrum of the autoimmune lymphoproliferative syndromes

Several autoimmune lymphoproliferative syndromes have been described lately. We review here the main clinical and laboratory findings of these new disorders.

The prototypical autoimmune lymphoproliferative syndrome (ALPS) has had its diagnostic criteria modified, somatic mutations in RAS genes were found to cause an ALPS-like syndrome in humans, and mutations in a gene encoding a protein kinase C (PRKCD) were discovered to cause a syndrome of lymphoproliferation, autoimmunity and natural killer cell defect.

The recent discoveries shed light on the molecular pathways governing lymphocyte death, proliferation and immune tolerance in humans.