Autoimmune lymphoproliferative syndrome (ALPS) [33 genes]

Autoimmune lymphoproliferative syndrome (ALPS) is a genetic disorder that affects the regulation of lymphocyte homeostasis, especially caused by alteration of apoptosis processes that occur during T cell selection. The genetic test is a primary diagnosis method for patients who meet the clinical diagnostic criteria for ALPS: increase in double-negative (DN) T cells + chronic lymphadenopathy non-malignant and non-infectious. There are other analytical manifestations and non-specific symptoms present in ALPS and ALPS-like cases that increase complexity of the pathology diagnosis.

• Unknown
• At least 650 pathogenic variants described

• Diagnosis and genetic counseling
• Immunosuppressants
• Monoclonal antibodies
• Hematopoietic stem cell transplantation (HSCT)

The identification of clinically relevant variants allows an accurate molecular diagnosis and genetic counseling. Both dominant and recessive forms have been described. Genetic testing also provides value for treatment option evaluation.

The ALPS panel is indicated in those patients who meet the diagnostic criteria for ALPS and in whom there is suspicion of the disease.

• Increase in DN T-cells
• Reduction of CD27+ B-cells
• Chronic non-malignant, non-infectious lymphadenopathy