title: Presentation of hemophagocytic lymphohistiocytosis due to a novel MUNC 13-4 mutation masked by partial therapeutic immunosuppression.
abstract: Hemophagocytic lymphohistiocytosis is a potentially fatal disease characterized by excessive macrophage and lymphocyte activity. Patients can be affected following immune activation after an oncologic, autoimmune or infectious trigger. An associated gene mutation may be found which impairs cytolytic lymphocyte function. We describe a pediatric case of hemophagocytic lymphohistiocytosis with a novel mutation of MUNC 13-4 whose diagnosis was confounded by concurrent immunosuppression. Clinical reassessment for hemophagocytic lymphohistiocytosis is necessary in persistently febrile patients with laboratory derangements in the setting of immunosuppressive agent exposure.
authors.affiliation: Division of Allergy and Immunology, The Children's Hospital of Philadelphia, 3550 Market Street, Philadelphia, PA 19104-4399, USA. garrettjp@email.chop.edu.
authors.forename: Jackie P-D
authors.initials: JP
authors.lastname: Garrett
authors.forename: Irene
authors.initials: I
authors.lastname: Fung
authors.forename: Jeremy
authors.initials: J
authors.lastname: Rupon
authors.forename: Andrea
authors.initials: A
authors.lastname: Knight
authors.forename: Melissa
authors.initials: M
authors.lastname: Mizesko
authors.forename: Michelle
authors.initials: M
authors.lastname: Paessler
authors.forename: Jordan S
authors.initials: JS
authors.lastname: Orange