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

TitlePresentation of hemophagocytic lymphohistiocytosis due to a novel MUNC 13-4 mutation masked by partial therapeutic immunosuppression.
Publication TypeJournal Article
Year of Publication2012
AuthorsGarrett JPD, Fung I, Rupon J, Knight AM, Mizesko M, Paessler M, Orange JS
JournalPediatr Rheumatol Online J
Volume10
Issue1
Pagination13
Date Published2012
ISSN1546-0096
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.

DOI10.1186/1546-0096-10-13
Alternate JournalPediatr Rheumatol Online J
PubMed ID22554126
PubMed Central IDPMC3503647