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Background The autoimmune lymphoproliferative syndrome (ALPS) is a genetic disorder of lymphocyte apoptosis. ALPS is characterized by childhood onset of lymphadenopathy, hepatosplenomegaly, autoimmune cytopenias, elevated (>1,5%) double negative T (DNT; CD3+TCRab+CD4CD8-) lymphocytes in peripheral blood and an increased risk of lymphoma. Most cases (>65%), known as ALPS type Ia, are associated with dominant heterozygous germline mutations in the TNFRSF6 gene encoding the protein for CD95 (Fas). Other genes are implicated in different ALPS subtypes (TNFSF6-Fas ligand, CASP8, CASP10 and N-RAS).

Mutations in the Fas gene found in Spanish ALPS (autoimmune lymphoproliferative syndrome) patients