autoimmunity/Autoinflammatory Flashcards
Components of the inflammasome complex
ASC + procaspase 1 -> caspase 1 -> IL-1 + HK-kB + apoptosis
+ve and -ve stimulants for the inflammasome complex
cryopyrin = + ve (inc ASC prod)
pyrin marenostrin = -ve
MEFV mut
Familial med fever
mut -> dec pyrin marenostrin -> inc inflammasome complex
fam med fever - inc risk of what
inc risk AA amyloidosis
most common cause of fever that comes and goes
subacute inf endocarditis (not FMF)
tx for FMF
colchicine
anakira (anti-IL-1R)
TNF alpha inhib
hypopara, addisons, chronic thrush inf
AIRE defect
APS-1/APECED
defect -> dec apoptosis of autoreg t cells -> failure of central tolerance
diarrhoea, T1DM, dermatitis, hypothy
mut in foxp3
IPEX
x-linked mut to foxP3 -> dec Treg dev -> failure of periph tolerance
v high, double neg lymphocytes
splenomeg, lymphadenopathy, cytopenias
ALPS
mut in FAS path -> dec apoptosis of lymphocytes
inc risk of what in ALPS
lymphomas
NOD2/CARD15 mut
-> inc risk crohns
tx for crohns
azathioprine, steroids, anti-TNFa, anti-IL12/23
lower back pain in the morning that gets better as you move about
strong FHx
HLAB27+
ank spond (seroneg) -> enthesitis (inflam where tendons join bone) sacroilitis
Tx for ank spond
NSAIDs, physio, anti-TNFa, Anti-IL17
HLADR-15 allele
inc risk goodpastures