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

• मुख्य लेखकों: Mohammad Reza Bordbar (लेखक), Farzaneh Modarresi (लेखक), Mohammad Ali Farazi Fard (लेखक), Hassan Dastsooz (लेखक), Nader Shakib Azad (लेखक), Mohammad Ali Faghihi (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2017-05-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...