Autoimmune and Autoinflammatory

Question 1

familial mediterranean fever
mx?

Answer 1

colchicine 500ug BD

anakinra - IL-1 receptor block
etanercept - TNFa block

Question 2

inflammasome complex?

activated by?

Answer 2

toxins, pathogens, urate

cryopyrin, ASC> procaspin 1

= NFkB, Il-1 and apoptosis

pyrin-marenostrin negative regulator

Question 3

Monogenic autoimmune

Answer 3

APECED - AIRE gene
IPEX- foxp3
ALPS - fas ligand

Question 4

what is AIRE?

Answer 4

autoimmune regulator ; TF promotes apotosis of self reactive t cells

if AIRE gene is faulty> central tolerance fails = autoreactive t cells

Question 5

APECED - what conditions

Answer 5

hypoparathyroid
addisons
hypothyroid
DM
Vetiligo

Question 6

recurrent candida infection in individual with monogenic autoimmune condition

which condition
why?

Answer 6

APECED
antibody against IL17, IL22

Question 7

FMV - gene

Answer 7

MEFV

encodes pryin marenostrin > which mutated does not inhibit inflammasome complex

Question 8

apeced

Answer 8

autoimmune polyendocrinopathy candidiasis ectodermal dystrophy

autosomal recessive

Question 9

IPEX

Answer 9

immune dysregulation polyendocrinopathy enteropathy x linked

Question 10

NLRp3 mutated

Answer 10

muckle wells
familail cold autoinflammatory
NOMID

autosomal dominant 2

Question 11

what does foxp3 do?

Answer 11

develop treg cells
if mutated you get IPEX

= autoantibody

Question 12

IPEX diseases!

Answer 12

diabetes
dermatitis
diarrhoea

foxp3 mutated > treg not normal> autoantibody

Question 13

ALPS

Answer 13

autoimmune lymphoproliferative syndrome

fas ligand
defective apoptosis
- too many lymphocytes and autoreactive ones

Question 14

ALPS -clinical picture?

Answer 14

high lymph count
large spleen
lymph node
autoimmune
lymphoma

Question 15

NOD2

Answer 15

chromosome 16 - Crohns’
cytoplasm of myeloid cells - microbial snesor

Question 16

mx of crohn’s

Answer 16

corticosteroids
aza
anti-tnfa
anti-il 12/13

Question 17

t cell activation - 2 genes in polygeneic autoimmune disease?

Answer 17

ptpn22
ctla4

Question 18

is autoinflammatory driven by adaptive ?

Answer 18

no innate immune system
no antibodies / hla associ weak

Question 19

autoimmune is driven by components of adaptive?

Answer 19

true
hla associations
2

Question 20

peripheral tolerance?

Answer 20

co stimulation

treg
immune privilege 2

Question 21

gain of function mutation in

Answer 21

cryopyrin

Question 22

IPEX

Answer 22

foxp3 - treg

Diarrhoea, Diabetes, Dermatitis