Autoimmune lymphoproliferative syndrome

Last revised by Dr David Luong on 12 Jul 2021

Autoimmune lymphoproliferative syndrome (ALPS) is a rare lymphoproliferative condition.

Clinical presentation

It presents with chronic lymphadenopathy, splenomegaly, and symptomatic multilineage cytopenias in an otherwise healthy child.

Pathology

It represents a failure of apoptotic mechanisms to maintain lymphocyte homeostasis and is a rare inherited disorder most commonly occurring due to mutations in the FAS (TNFRSF6) gene. Other mutations of the genes such as Fas-ligand (FASLG), Caspase 10 (CASP10) and Caspase 8 (CASP8), NRAS and KRAS have also been observed in small numbers of patients and approximately 20-30% of patients may have an unidentified defect 6.

Complications

Although initial lymphadenopathy is non-malignant, patients have an increased risk of developing:

 

 

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