#PedsRheum Basic and Translational Research YIR by @GrantSchulert

Topics include
👉Pyrin, FMF, and the plague
👉Molecular heterogeneity in cSLE
👉Genetics of PFAPA
👉IFN signature in autoinflammation
👉MIS-C immunology

@egeli_bugra @dsoulsMD
#ACR20 #ACRambassador
Pyrin, FMF, and the plague
https://www.nature.com/articles/s41590-020-0705-6

👉Yersinia infection induced higher IL-1B from FMF PBMCs
👉Evolutionarily and functionally links FMF to historic plague

#ACR20 #ACRambassador
Molecular heterogeneity of pediatric #SLE
https://www.nature.com/articles/s41590-020-0743-0

👉Single-cell RNA-seq of PBMC, n=33
👉Mapped IFN signature to subset of cells
👉Expansion of enriched populations with high disease activity

#ACR20 #ACRambassador
Genetics susceptibility for #PFAPA
https://www.pnas.org/content/117/25/14405

3 large PFAPA cohorts
👉PFAPA shares risk loci with Behcet’s - IL12A
👉Behcet’s spectrum disorder with stronger HLA associations

#ACR20 #ACRambassador
Dissecting IFN signature in autoinflammation
https://pubmed.ncbi.nlm.nih.gov/31874111/ 

ISG-S screen in unidentified autoinflammation, n=66
4 new entities
👉1 - IL-18-PAP-MAS
👉2 - LRBA deficiency
👉3 - NEMO
👉4 - SAAD

#ACR20 #ACRambassador
Dissecting IFN signature in autoinflammation https://pubmed.ncbi.nlm.nih.gov/31874111/ ISG-S screen in unidentified autoinflammation, n=664 new entities1 - IL-18-PAP-MAS2 - LRBA deficiency3 - NEMO4 - SAAD #ACR20 #ACRambassador
Dissecting IFN signature in autoinflammation https://pubmed.ncbi.nlm.nih.gov/31874111/ ISG-S screen in unidentified autoinflammation, n=664 new entities1 - IL-18-PAP-MAS2 - LRBA deficiency3 - NEMO4 - SAAD #ACR20 #ACRambassador
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