Autoimmune lymphoproliferative syndrome: a cause of chronic splenomegaly, lymphadenopathy, and cytopenias in children-report on diagnosis and management of five patients

Pediatric Blood & Cancer
Carlos S AlvaradoStephen J Lauer

Abstract

Autoimmune lymphoproliferative syndrome (ALPS) usually manifests in early childhood with splenomegaly, lymphadenopathy, and cytopenias. In most patients, it results from mutations in genes that regulate lymphocyte apoptosis via the Fas pathway. Here, we report five children with ALPS. All five children had splenomegaly, cytopenias, and hypertriglyceridemia at presentation; four had lymphadenopathy. Mutations in the Fas receptor gene were demonstrated in three children. Clinical picture is variable: in only one child manifestations are severe enough to require immunosuppressive therapy. Diagnosis of ALPS can be challenging and increased awareness of the disease can result in more directed diagnostic approaches as well as earlier initiation of treatment.

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Citations

Mar 23, 2010·The Journal of Steroid Biochemistry and Molecular Biology·Louise HarveyDarryl W Eyles
Apr 14, 2006·British Journal of Haematology·Austen WorthH Bobby Gaspar
May 7, 2014·Biochimica Et Biophysica Acta·Jan Albert Kuivenhoven, Robert A Hegele
Sep 1, 2016·Case Reports in Immunology·Swetha SriramSeema Kumar

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Autoimmune diseases occur as a result of an attack by the immune system on the body’s own tissues resulting in damage and dysfunction. There are different types of autoimmune diseases, in which there is a complex and unknown interaction between genetics and the environment. Discover the latest research on autoimmune diseases here.

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Autoimmune lymphoproliferative syndrome (ALPS) is a rare genetic disorder of abnormal lymphocyte survival caused by defective Fas mediated apoptosis. Discover the latest research on ALPS here.

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