autoimmune lymphoproliferative syndrome

Full Definition

Autoimmune lymphoproliferative syndrome (ALPS) is a rare primary immunodeficiency caused by defective lymphocyte apoptosis, most commonly due to mutations in the FAS gene. The condition is characterized by chronic non-malignant lymphoproliferation, including lymphadenopathy and splenomegaly, along with autoimmune manifestations such as hemolytic anemia, thrombocytopenia, and neutropenia. Patients have an increased risk of lymphoma and may present with elevated double-negative T cells (CD4-CD8-) on flow cytometry.

Usage

Usage note: ALPS is the preferred abbreviation; emphasize the autoimmune rather than proliferative component.

In Context

• "The combination of massive splenomegaly and autoimmune hemolytic anemia raised suspicion for autoimmune lymphoproliferative syndrome." — Clinical presentation
• "Flow cytometry showed elevated double-negative T cells, supporting the diagnosis of autoimmune lymphoproliferative syndrome." — Laboratory findings