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

Familial hemophagocytic lymphohistiocytosis (FHL) is an immunological disorder characterized by overactivation of macrophages and T lymphocytes. This autosomal recessive condition has been characterized into m...

Source: BMC Pediatrics - January 11, 2024 Category: Pediatrics Authors: Chinmayee B. Nagaraj, Diana S. Brightman, Hannah Rea, Emily Wakefield, Nina V. G. Harkavy, Lisa Dyer and Wenying Zhang Tags: Case Report Source Type: research