Detection of a novel gross deletion in the UNC13D gene ends the diagnostic odyssey for a family with familial hemophagocytic lymphohistiocytosis 3

• Main Authors: Chinmayee B. Nagaraj (Author), Diana S. Brightman (Author), Hannah Rea (Author), Emily Wakefield (Author), Nina V. G. Harkavy (Author), Lisa Dyer (Author), Wenying Zhang (Author)
• Format: Book
• Published: BMC, 2024-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Familial hemophagocytic lymphohistiocytosis (FHL) is an immunological disorder characterized by overactivation of macrophages and T lymphocytes. This autosomal recessive condition has been characterized into multiple types depending on the genetic etiology. FHL type 3 is associat...