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Autoimmune lymphoproliferative syndrome

Evidence: T Cell

Names

Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome

Description

Autoimmune lymphoproliferative syndrome (ALPS) is a rare genetic disease that causes the overproduction of lymphocytes. ALPS results from mutations in one of the genes controlling how lymphocytes work. The most common gene affected is called FAS. This leads to the enlargement of lymph nodes (lymphadenopathy), the liver (hepatomegaly), and the spleen (splenomegaly). ALPS can cause anemia (low level of red blood cells), thrombocytopenia (low level of platelets), and neutropenia (low level of neutrophils). ALPS can also cause impairing symptoms and increase the risk of developing serious health conditions, such as autoimmune diseases and lymphoma.

Patient Groups

None

Bloggers

None

Prevalence

Around 500 patients with ALPS in more than 300 families have been reported worldwide with no racial or ethnic predilection [Shah et al 2014].

The true prevalence of ALPS is still unknown as many individuals are undiagnosed or misdiagnosed [Shah et al 2014].

Typical Age of onset

No specific age, ALPS affects both children and adults [NIAID]

Symptoms

  • Enlargement of lymph nodes

  • Enlargement of spleen

  • Enlargement of liver

  • Low blood counts 

  • Fatigue 

  • Pallor 

  • Jaundice 

  • Frequent Infections