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

• Main Authors: Mohammad Reza Bordbar (Author), Farzaneh Modarresi (Author), Mohammad Ali Farazi Fard (Author), Hassan Dastsooz (Author), Nader Shakib Azad (Author), Mohammad Ali Faghihi (Author)
• Format: Book
• Published: BMC, 2017-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...