A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosis

A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosis

Abstract Background Hemophagocytic Lymphohistiocytosis (HLH) is a life-threatening immunodeficiency and multi-organ disease that affects people of all ages and ethnic groups. Common symptoms and signs of this disease are high fever, hepatosplenomegaly, and cytopenias. Familial form of HLH disease, w...

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Bibliographic Details
Main Authors: Mohammad Reza Bordbar, Farzaneh Modarresi, Mohammad Ali Farazi Fard, Hassan Dastsooz, Nader Shakib Azad, Mohammad Ali Faghihi
Format: Article
Language:English
Published: BMC 2017-05-01
Series:BMC Medical Genetics
Subjects:
Hemophagocytic Lymphohistiocytosis (HLH)
PRF1
Case report
Novel mutation
Online Access:http://link.springer.com/article/10.1186/s12881-017-0404-9

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http://link.springer.com/article/10.1186/s12881-017-0404-9

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