Autoimmune lymphoproliferative syndrome (ALPS)

Dysregulation of lymphocytes (immune system cells) results in overproduction and subsequent enlargement of the lymph nodes, spleen, and liver. Those who have ALPS tend to be at a higher risk of developing cancers that affect the immune system, and other autoimmune diseases that damage blood cells. ALPS is typically a result of inherited mutations of the FAS gene or a non-inherited mutation of the lymphocyte cells. The FAS gene is responsible for programming cell death; when this does not occur normally, a surplus of lymphocytes results, which attack different parts of the body.

Rashes, panniculitis, arthritis, vasculitis, mouth sores, premature ovarian failure, neurological damage, splenomegaly, and chronic noninfectious lymphadenopathy.

Autoimmune diseases including autoimmune hemolytic anemia, autoimmune thrombocytopenia (Evans syndrome), autoimmune neutropenia, glomerulonephritis, autoimmune hepatitis, uveitis, Guillain-Barré syndrome, or urticaria. Cancers also tend to co-exist with ALPS, including various forms of lymphoma or carcinomas.

A family history – even if there is only one parent that passes down the mutated form of the FAS gene, the offspring can develop the condition.

• Autoimmune Lymphoproliferative Syndrome (ALPS) Disease and ALPS Phenotype: Are They Two Distinct Entities? (2023)
• Revisiting autoimmune lymphoproliferative syndrome caused by Fas ligand mutations (2023)
• ALPS, FAS, and beyond: from inborn errors of immunity to acquired immunodeficiencies (2022)
• The challenge of early diagnosis of autoimmune lymphoproliferative syndrome in children with suspected autoinflammatory/autoimmune disorders (2022)