Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis

Abstract excerpt

Editor—The histiocytoses represent a heterogeneous group of disorders including both hereditary and sporadic forms. The familial form of haemophagocytic lymphohistiocytosis (HLH) was originally described by Farquhar and Claireaux1 in 1952. The main features of this disease are fever, hepatosplenomegaly, cytopenia, hypertriglyceridaemia, hypofibrinogenaemia, and central nervous system involvement.2 3...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Autoimmune and Inflammatory Disorders Research
• Share to Histiocytic Disorders and Treatments
• Share to Parvovirus B19 Infection Studies