Enrichment of Rare Variants of Hemophagocytic Lymphohistiocytosis Genes in Systemic Juvenile Idiopathic Arthritis.
Mariana Correia MarquesDanielle RubinEmily G ShuldinerMallika DattaElizabeth SchmitzGustavo Gutierrez CruzAndrew PattElizabeth BennettAlexei GromDirk FoellMarco GattornoJohn BohnsackRae S M YeungSampath PrahaladElizabeth MellinsJordi AntonClaudio A LenSheila OliveiraPatricia WooSeher Senernull nullZuoming DengMichael J OmbrelloPublished in: Arthritis & rheumatology (Hoboken, N.J.) (2024)
We identified an enrichment of rare HLH variants in sJIA patients compared with controls, driven by STXBP2 and UNC13D. Biallelic variation in HLH genes was associated with sJIA, driven by LYST. Only UNC13D 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
- end stage renal disease
- genome wide
- ejection fraction
- newly diagnosed
- chronic kidney disease
- prognostic factors
- peritoneal dialysis
- bioinformatics analysis
- disease activity
- intellectual disability
- patient reported outcomes
- systemic lupus erythematosus
- dna methylation
- rheumatoid arthritis
- autism spectrum disorder
- genome wide analysis