Rare cause of Hemophagocytic Lymphohistiocytosis due to mutation in PRF1 and SH2D1A genes in two children – a case report with a review

Rare cause of Hemophagocytic Lymphohistiocytosis due to mutation in PRF1 and SH2D1A genes in two children – a case report with a review

Abstract Background Hemophagocytic Lymphohistiocytosis (HLH) is a rare, complex, life-threatening hyper-inflammatory condition due to over activation of lymphocytes mediated secretory cytokines in the body. It occurs as a primary HLH due to genetic defect that mostly occurs in the childhood and asso...

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Bibliographic Details
Main Authors: Jayesh Sheth, Akash Patel, Raju Shah, Riddhi Bhavsar, Sunil Trivedi, Frenny Sheth
Format: Article
Language:English
Published: BMC 2019-03-01
Series:BMC Pediatrics
Subjects:
Case report
Hemophagocytic Lymphohistiocytosis
HLH
PRF1
SH2D1A
Next generation sequencing
Online Access:http://link.springer.com/article/10.1186/s12887-019-1444-4

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http://link.springer.com/article/10.1186/s12887-019-1444-4

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