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

Autor:	Nagaraj, Chinmayee B., Brightman, Diana S., Rea, Hannah, Wakefield, Emily, Harkavy, Nina V. G., Dyer, Lisa, Zhang, Wenying
Předmět:	HEMOPHAGOCYTIC lymphohistiocytosis DELETION mutation MACROPHAGE activation syndrome GENETIC testing T cells PATIENTS' families RECESSIVE genes
Zdroj:	BMC Pediatrics; 1/11/2024, Vol. 24 Issue 1, p1-5, 5p
Abstrakt:	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 associated with bi-allelic pathogenic variants in the UNC13D gene. Case presentation: We present a 12-year diagnostic odyssey for a family with FHL that signifies the advances of FHL genetic testing in a clinical genetic diagnostic laboratory setting. We describe the first case of a large UNC13D gross deletion in trans to a nonsense variant in a family with FHL3, which may have been mediated by Alu elements within introns 12 and 25 of the UNC13D gene. Conclusions: This case highlights the importance of re-evaluating past genetic testing for a patient and family as test technology evolves in order to end a diagnostic odyssey. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
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