Title

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

Year of Publication

2012

Number of Pages

13

Date Published

2012

ISSN Number

1546-0096

Abstract

<p>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.</p>

DOI

10.1186/1546-0096-10-13

Alternate Title

Pediatr Rheumatol Online J

PMID

22554126

WATCH THIS PAGE

Subscription is not available for this page.