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Article

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

BMC pediatrics - 11 Jan 2024

Nagaraj Chinmayee B, Brightman Diana S, Rea Hannah, Wakefield Emily, Harkavy Nina V G, Dyer Lisa, Zhang Wenying

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38212754
DOI: 10.1186/s12887-023-04510-3
PMCID: PMC10782673

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