Thread by @rheum_cat

Smart move: Having Dan Kastner give the last talk of the #ACR22 #ReviewCourse

I look forward to exciting onomatopoeia

Remind yourself of the features of the innate immune system #ACR22 #ReviewCourse

FMF 101, all on one slide

🧬Mutation: MEFV which encodes the protein pyrin
(#ACRKnowledgeBowl stuff!)

💊colchicine or 💉canakinumab if intolerant/refractory

#ACR22 #ReviewCourse

TRAPS - perhaps best to learn it in contrast to FMF
⚡️longer episodes
⚡️not responsive to colchicine

🧬TNFRSF1A, coding for p55 TNF receptor
💉canakinumab (though steroids effective)

#ACR22 #ReviewCourse

HIDS: a misnomer; 🧬MVK mutation (mevalonate kinase)

💉canakinumab

#ACR22 #Reviewcourse

Cryopyrinopathies:

🧬NLRP3 mutation (protein, cryopyrin)

💉IL 1 inhibitors

#ACR22 #ReviewCourse

"A triumph of molecular medicine": the effective use of IL-1b inhibition in cryopyrinopathies

An erstwhile mentor told me this was a "feel good NIH story"

#ACR22 #ReviewCourse

I really love IL-1b inhibition y'all #ACR22 #throwback

https://twitter.com/rheum_cat/status/1054746291706740736?s=20&t=xJ83hsJ-ROsbF9f6M5sYlA

Now the story of DADA2

protein: adenosine deaminase 2
➡️effects on vascular and myeloid development
➡️hence early onset strokes, livedo, vasculopathy

#ACR22 #ReviewCourse

He's going to end with #VEXAS with the exclamation point

The story involves working backwards: genotype first, rather than collecting cases with similar phenotype

#ACR22 #ReviewCourse

🧬"UBA1 is the mother of all ubiquitin genes"

🔍Curious part of the story: it's encoded on the X chromosome in a disease seen in older men

💡It's a sporadic mutation

#ACR22 #ReviewCourse

"This is fact stranger than fiction!"

🔍odd vacuoles in the myeloid precursor cells in the bone marrow

After discussion with heme path, they found more patients (seen 8 yrs prior) with #VEXAS

#ACR22 #ReviewCourse

Waiting for him to say "VEXAS rhymes with Texas" as he did in a prior presentation

#ACR22 #ReviewCourse

https://twitter.com/DrPedsRheum/status/1364621046947606529?s=20&t=LN8nbCFX4Kc_2RzyOEr6qA