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April - June 2021 | Vol. 14 | Issue 2 | 08-13
Familial Hemophagocytic Lymphohistiocytosis (FHL): An Illustrative Case and Review of Literature
Savitha H, Sankar V H
Department of Paediatrics, SAT Hospital, Government Medical College, Thiruvananthapuram, India
Address for Correspondence Email: sankarvh@gmail.com
Familial hemophagocytic lymphohistiocytosis (FHL) is a hyperinflammatory disorder which occurs due to a genetic defect in the cytolytic pathway of natural killer cells and cytotoxic T cells. We present here the case of a female infant who presented with the typical features of high-grade fever, hepatosplenomegaly and pancytopenia, and was diagnosed to have FHL due to a homozygous variant in the STXBP2 gene.
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