Novel mutation in perforin gene causing familial hemophagocytic lymphohistiocytosis type 2 in an Egyptian infant: case report

Novel mutation in perforin gene causing familial hemophagocytic lymphohistiocytosis type 2 in an Egyptian infant: case report

Abstract Background Hemophagocytic lymphohistiocytosis (HLH) is a syndrome of pathological immune activation characterized by clinical signs and symptoms of extreme inflammation. It results from the uninhibited proliferation and activation of cells of the macrophage lineage and leads to the producti...

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Bibliographic Details
Main Authors: Mohamed Almalky, Safaa H. A. Saleh, Eman Gamal Baz, Ahmed Elsadek Fakhr
Format: Article
Language:English
Published: SpringerOpen 2020-06-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Perforin (PRF1)
Familial hemophagocytic lymphohistiocytosis 2 (FHL 2)
Case report
Novel mutation
Online Access:http://link.springer.com/article/10.1186/s43042-020-00067-3

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