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

Mariana Correia MarquesDanielle RubinEmily ShuldinerMallika DattaElizabeth SchmitzGustavo Gutierrez CruzAndrew PattElizabeth BennettAlexei GromDirk FoellMarco GattornoJohn BohnsackRae S M YeungSampath PrahaladElizabeth D MellinsJordi AntonClaudio Arnaldo LenSheila OliveiraPatricia WooSeza Ozennull nullZuoming DengMichael J Ombrello

Published in: medRxiv : the preprint server for health sciences (2024)

displayed enrichment in patients with MAS. This suggests that HLH variants may contribute to the pathophysiology of sJIA, even without MAS.

Keyphrases

juvenile idiopathic arthritis
copy number
genome wide
disease activity
systemic lupus erythematosus
rheumatoid arthritis
dna methylation
genome wide identification
bioinformatics analysis
genome wide analysis