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

doi:10.1002/art.42938

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Article

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

Arthritis & rheumatology (Hoboken, N.J.) - 1 Oct 2024

Correia Marques Mariana, Rubin Danielle, Shuldiner Emily G, Datta Mallika, Schmitz Elizabeth, Gutierrez Cruz Gustavo, Patt Andrew, Bennett Elizabeth, Grom Alexei, Foell Dirk, Gattorno Marco, Bohnsack John, Yeung Rae S M, Prahalad Sampath, Mellins Elizabeth, Anton Jordi, Len Claudio A, Oliveira Sheila, Woo Patricia, Ozen Seza, Deng Zuoming, Ombrello Michael J

Abstract excerpt

OBJECTIVE: Our objective was to evaluate whether there is an enrichment of rare variants in familial hemophagocytic lymphohistiocytosis (HLH)-associated genes among patients with systemic juvenile idiopathic arthritis (sJIA) with or without macrophage activation syndrome (MAS). METHODS: Targeted sequencing of HLH genes (LYST, PRF1, RAB27A, STX11, STXBP2, UNC13D) was performed in patients with sJIA from an...

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PMID: 38937141
DOI: 10.1002/art.42938

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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