Case Report

Pediatric Rheumatology

, 10:13

Open Access This content is freely available online to anyone, anywhere at any time.

Presentation of hemophagocytic lymphohistiocytosis due to a novel MUNC 13–4 mutation masked by partial therapeutic immunosuppression

  • Jackie P-D GarrettAffiliated withDivision of Allergy and Immunology, The Children’s Hospital of Philadelphia Email author 
  • , Irene FungAffiliated withDivision of Allergy and Immunology, The Children’s Hospital of Philadelphia
  • , Jeremy RuponAffiliated withDivisions of Hematology and Oncology, The Children’s Hospital of Philadelphia
  • , Andrea KnightAffiliated withDivision of Rheumatology, The Children’s Hospital of Philadelphia
  • , Melissa MizeskoAffiliated withDivision of Rheumatology, The Children’s Hospital of Philadelphia
  • , Michelle PaesslerAffiliated withDepartment of Pathology and Laboratory Medicine, The Children’s Hospital of Philadelphia, 34th and Civic Center Boulevard, University of Pennsylvania School of Medicine
  • , Jordan S OrangeAffiliated withDivision of Allergy and Immunology, The Children’s Hospital of Philadelphia

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.

Keywords

Hemophagocytic lymphohistiocytosis MUNC 13–4 Macrophage activation syndrome