Article

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

2023-03-24

Abstract excerpt

<h4>Background: </h4> 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 odys...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 9416d7fb-24c0-5913-a02a-3f79b78d955f
DOI: 10.21203/rs.3.rs-2596196/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Detection of a novel gross deletion in the UNC13D gene ends the diagnostic odyssey for a family with familial hemophagocytic lymphohistiocytosis 3DOI 10.21203/rs.3.rs-2596196/v1Read

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

Clinical, immunological and genetic findings in patients with UNC13D deficiency (FHL3): A systematic review.Semantic proximity Read

Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D.Semantic proximity Read

UNC13D mutation presenting as fulminant familial hemophagocytic lymphohistiocytosis.Semantic proximity Read

Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.Semantic proximity Read

The 253‐kb inversion and deep intronic mutations in <i>UNC13D</i> are present in North American patients with familial hemophagocytic lymphohistiocytosis 3Semantic proximity Read

Human CTL-based functional analysis shows the reliability of a munc13-4 protein expression assay for FHL3 diagnosis.Semantic proximity Read

Clinical and Genetic Analysis of Nine Suspected Familial Haemophagocytic Lymphohistiocytosis Patients for MUNC13-4 Deficiency and Introducing Four Novel Mutations in UNC13D.Semantic proximity Read

Atypical familial hemophagocytic lymphohistiocytosis type 3 in children: A report of cases and literature review.Semantic proximity Read

Novel deep intronic and missense UNC13D mutations in familial haemophagocytic lymphohistiocytosis type 3.Semantic proximity Read

Novel and atypical splicing mutation in a compound heterozygous UNC13D defect presenting in Familial Hemophagocytic Lymphohistiocytosis triggered by EBV infection.Semantic proximity Read

Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea.Semantic proximity Read