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Familial Hemophagocytic Lymphohistiocytosis Due to PRF1 Mutation Triggered by Enterovirus.

Authors :
Hana, Marlin
Memarian, Shadman
Tumin, Dmitry
Source :
Clinical Pediatrics. Nov2024, Vol. 63 Issue 11, p1608-1611. 4p.
Publication Year :
2024

Abstract

The article presents a case study of a 6-month-old African American girl diagnosed with familial hemophagocytic lymphohistiocytosis (HLH) triggered by enterovirus, characterized by prolonged fever, pancytopenia, and abnormal liver function. Topics include the diagnostic criteria and challenges of HLH, the therapeutic strategies employed to manage the condition, and genetic underpinnings associated with PRF1 mutations, which affect the perforin protein critical for immune response regulation.

Details

Language :
English
ISSN :
00099228
Volume :
63
Issue :
11
Database :
Academic Search Index
Journal :
Clinical Pediatrics
Publication Type :
Academic Journal
Accession number :
180151509
Full Text :
https://doi.org/10.1177/00099228241230818