Pediatric Rheumatology Online Journal (May 2012)

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

  • Garrett Jackie P-D,
  • Fung Irene,
  • Rupon Jeremy,
  • Knight Andrea,
  • Mizesko Melissa,
  • Paessler Michelle,
  • Orange Jordan S

DOI
https://doi.org/10.1186/1546-0096-10-13
Journal volume & issue
Vol. 10, no. 1
p. 13

Abstract

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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.

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