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NextGen 2024: Genetics in SJIA Session Part 1

NextGen 2024: Genetics in SJIA Session Part 1

@SJIA_Foundation
@SJIA_Foundation
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2 weeks ago 90
Science #sjiafoundation #sjia #curesjia #genetics

NextGen 2024: Genetics in SJIA Session Part 1

@SJIA_Foundation2 weeks ago

“Clinical Utility of Genetics in Systemic JIA” Randy Q. Cron, MD, PhD University of Alabama at…
1/12
Disclosures Randy Q. Cron, M.D., Ph.D. SOBI – investigator initiated clinical trial of anakinra …
2/12
Natural killer cell dysfunction in patients with systemic-onset juvenile rheumatoid arthritis and…
3/12
Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associa…
4/12
Novel UNC13D intronic variant disrupting a NFκB enhancer in a patient with recurrent macrophage a…
5/12
Vastert PRF1 A91V mutation sJIA/MAS – 20% vs. sJIA no MAS – 10%
6/12
Pt Age Sex Diagnosis Trigger Gene Mutation Amino Acid Change Prior Association Outcome 1 15 …
7/12
Heterozygous FHL gene mutations: 5/14 sJIA/MAS – 36% vs. 4/29 sJIA no MAS – 14% Kaufman
8/12
Role of DOCK8 in Cytokine Storm Syndromes. Zhang M, Cron RR, Chu N, Nguyen J, Gordon SM, Eloseily …
9/12
Ombrello
10/12
MAS Genetics in Systemic JIA Schulert Lee
11/12
Value of genetic knowledge in sJIA/MAS •IRF5, IL1RN, HLA-DRB1*15 - Ombrello •HLH gene associati…
12/12


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