Probable autoimmune lymphoproliferative syndrome with monogenic lupus due to KRAS mutation - A rare encounter
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Keywords
autoimmune lymphoprolifearive syndrome, monogenic lupus, KRAS, RAS associated leukoproliferative disorder
Abstract
Autoimmune lymphoproliferative syndrome (ALPS) is a disease characterized by dysfunction of the T lymphocyte apoptotic pathways, mostly due to dysfunctional FAS mediated signaling. However few cases can also occur independent of FAS pathway alteration. ALPS is characterized by various immuno-hematological manifestations. Monogenic lupus is an evolving entity, which describes the etiologic role of single gene modulation in systemic lupus erythematosus. In this manuscript, we describe a case of probable ALPS with monogenic lupus caused by a novel mutation in the KRAS gene.
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