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Article

Enrichment of Rare Variants of Hemophagocytic Lymphohistiocytosis Genes in Systemic Juvenile Idiopathic Arthritis

2024-03-15

Abstract excerpt

<h4>Objective</h4> To evaluate whether there is an enrichment of rare variants in familial hemophagocytic lymphohistiocytosis (HLH) genes and systemic juvenile idiopathic arthritis (sJIA) with or without macrophage activation syndrome (MAS). <h4>Methods</h4> Targeted sequencing of HLH genes ( LYST, PRF1, RAB27A, STX11, STXBP2, UNC13D ) was performed in sJIA subjects from an established cohort. Sequence data fro...

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Literature Corpus work
e0cc02c7-4839-55fa-9a71-69f8012752ce
DOI
10.1101/2024.03.13.24304215
Open publication

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Enrichment of Rare Variants of Hemophagocytic Lymphohistiocytosis Genes in Systemic Juvenile Idiopathic ArthritisDOI 10.1101/2024.03.13.24304215
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