autoimmunity/Autoinflammatory

Question 1

Components of the inflammasome complex

Answer 1

ASC + procaspase 1 -> caspase 1 -> IL-1 + HK-kB + apoptosis

Question 2

+ve and -ve stimulants for the inflammasome complex

Answer 2

cryopyrin = + ve (inc ASC prod)

pyrin marenostrin = -ve

Question 3

MEFV mut

Answer 3

Familial med fever

mut -> dec pyrin marenostrin -> inc inflammasome complex

Question 4

fam med fever - inc risk of what

Answer 4

inc risk AA amyloidosis

Question 5

most common cause of fever that comes and goes

Answer 5

subacute inf endocarditis (not FMF)

Question 6

tx for FMF

Answer 6

colchicine
anakira (anti-IL-1R)
TNF alpha inhib

Question 7

hypopara, addisons, chronic thrush inf

AIRE defect

Answer 7

APS-1/APECED

defect -> dec apoptosis of autoreg t cells -> failure of central tolerance

Question 8

diarrhoea, T1DM, dermatitis, hypothy

mut in foxp3

Answer 8

IPEX

x-linked mut to foxP3 -> dec Treg dev -> failure of periph tolerance

Question 9

v high, double neg lymphocytes

splenomeg, lymphadenopathy, cytopenias

Answer 9

ALPS

mut in FAS path -> dec apoptosis of lymphocytes

Question 10

inc risk of what in ALPS

Answer 10

lymphomas

Question 11

NOD2/CARD15 mut

Answer 11

-> inc risk crohns

Question 12

tx for crohns

Answer 12

azathioprine, steroids, anti-TNFa, anti-IL12/23

Question 13

lower back pain in the morning that gets better as you move about
strong FHx
HLAB27+

Answer 13

ank spond (seroneg) 
-> enthesitis (inflam where tendons join bone)
sacroilitis

Question 14

Tx for ank spond

Answer 14

NSAIDs, physio, anti-TNFa, Anti-IL17

Question 15

HLADR-15 allele

Answer 15

inc risk goodpastures

Question 16

HLADR-3

Answer 16

inc risk graves, SLE, T1DM

Question 17

HLADR-4

Answer 17

RA

Question 18

effect of PYPN22 or CTLA4 mut

Answer 18

dec periph tolerance -> polygenic autoimmune

Question 19

anti-GAD abs

anti-islet cell

Answer 19

T1DM (T1/4)

Question 20

antibodies in pernicious anaemia (T2)

Answer 20

anti-IF = most specific

anti-gastric parietal cell = most sensitive

Question 21

anti-nAChR ab

Answer 21

myaesthenia gravis (T2)

Question 22

ab = anti-basement memb of Type IV collagen

Answer 22

Goodpastures (T2)

Question 23

most specific ab in rheumatoid arth

Answer 23

anti-ccp abs

Question 24

anti-dsDNA

Answer 24

v specific for SLE

diag + monitor

Question 25

anti-Ro/La

Answer 25

Sjogrens

Question 26

anti-Scl170

Answer 26

diffuse scleroma

Question 27

anti-centromere

Answer 27

limited scleroma

Question 28

what can be used to monitor SLE

Answer 28

anti-dsDNA

C3/C4 levels

Question 29

long APTT
anti-cardioliptin ab
recurrent venous/arterial thrombosis

Answer 29

anti-phospholipid syndro

-> also recurrent miscarriages

Question 30

what mediates the inflam in systemic sclerosis

Answer 30

Th2/Th17

Question 31

muscle weakness, skin rash

anti Jo1

Answer 31

dermatomyositis

Question 32

muscle weakness

anti SRP

Answer 32

polymyositis

Question 33

classification of vasculitis

Answer 33

Chapel hill clasification