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

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
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
Series:BMC Pediatrics
Subjects:
Familial hemophagocytic lymphohistiocytosis type 3
UNC13D
Deletion
Diagnostic odyssey
Online Access:https://doi.org/10.1186/s12887-023-04510-3

Internet

https://doi.org/10.1186/s12887-023-04510-3

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