Autoimmune lymphoproliferative syndrome (ALPS) is a disorder due to a
genetic defect concerning programmed cell death (apoptosis). Most
patients are carriers of a heterozygous mutation affecting the TNFRSF6
(Fas). Treatment of autoimmune complications of ALPS includes
corticosteroids, gamma-globulin infusions, and in refractory cases,
splenectomy, cytostatic agents, and bone marrow transplantation. A
10-year-old boy with ALPS manifested by recurrent febrile episodes,
lymphadenopathy, splenomegaly, and cytopenias refractory to
corticosteroid therapy is presented. Treatment with mycophenolate
mofetil, an immunosuppressive agent typically used in organ
transplantation was initiated. This treatment was successful with
resolution of thrombocytopenia, decrease in lymphadenopathy, and
improvement of his general clinical condition for over 2 years of
duration
