Autoimmune lymphoproliferative syndrome (ALPS) is characterized by non-malignant lymphoproliferation and autoimmunity, with a wide spectrum of clinical manifestations (OMIM 601859). Typical features include enlarged spleen and lymph nodes and autoimmune cytopenia. We describe a family with ALPS in which two cousins independently presented to their physicians with infection and discuss the therapeutic potential of sirolimus.

Low-dose sirolimus in two cousins with autoimmune lymphoproliferative syndrome-associated infection

Valencic E.;Loganes C.;Pelos G.;Tommasini A.
2018

Abstract

Autoimmune lymphoproliferative syndrome (ALPS) is characterized by non-malignant lymphoproliferation and autoimmunity, with a wide spectrum of clinical manifestations (OMIM 601859). Typical features include enlarged spleen and lymph nodes and autoimmune cytopenia. We describe a family with ALPS in which two cousins independently presented to their physicians with infection and discuss the therapeutic potential of sirolimus.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11368/2964579
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