title: Advances in the management and understanding of autoimmune lymphoproliferative syndrome (ALPS).
abstract: Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of T cell dysregulation caused by defective Fas-mediated apoptosis. Patients with ALPS can develop a myriad of clinical manifestations including lymphadenopathy, hepatosplenomegaly, autoimmunity and increased rates of malignancy. ALPS may be more common that originally thought, and testing for ALPS should be considered in patients with unexplained lymphadenopathy, hepatosplenomegaly, and/or autoimmunity. As the pathophysiology of ALPS is better characterized, a number of targeted therapies are in preclinical development and clinical trials with promising early results. This review describes the clinical and laboratory manifestations found in ALPS patients, as well as the molecular basis for the disease and new advances in treatment.
authors.affiliation: Children's Hospital of Philadelphia, University of Pennsylvania, 19104, USA. teacheyd@email.chop.edu
authors.forename: David T
authors.initials: DT
authors.lastname: Teachey
authors.forename: Alix E
authors.initials: AE
authors.lastname: Seif
authors.forename: Stephan A
authors.initials: SA
authors.lastname: Grupp
mesh_terms: D000744:Anemia, Hemolytic, Autoimmune / Q000175:diagnosis; D056735:Autoimmune Lymphoproliferative Syndrome / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D003937:Diagnosis, Differential; D005938:Glucocorticoids / Q000627:therapeutic use; D006801:Humans; D007155:Immunologic Factors / Q000627:therapeutic use; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D009154:Mutation; D009503:Neutropenia / Q000175:diagnosis; D011696:Purpura, Thrombocytopenic / Q000175:diagnosis
chemical_list: D005938:Glucocorticoids; D007155:Immunologic Factors; D007166:Immunosuppressive Agents