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

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...

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Bibliographic Details

Published in:	BMC Pediatrics
Main Authors:	Chinmayee B. Nagaraj, Diana S. Brightman, Hannah Rea, Emily Wakefield, Nina V. G. Harkavy, Lisa Dyer, Wenying Zhang
Format:	Article
Language:	English
Published:	BMC 2024-01-01
Subjects:	Familial hemophagocytic lymphohistiocytosis type 3 UNC13D Deletion Diagnostic odyssey
Online Access:	https://doi.org/10.1186/s12887-023-04510-3