Autoimmunity

Question 1

FMF mutation and treatment

Answer 1

MEFV mutation which encodes the pyrin protein

treatment: daily colchicine, IL-1 inhibitors for patients intolerance or unresponsive to colchicine

Question 2

TRAPS

Answer 2

TNF receptor associated periodic fever syndrome

• distinguished by migratory rash and perioribital edema
• due to a mut in TNFRSF1A
• tx with steroids, etanercept and anakinra

Question 3

HIDS

Answer 3

hyper IGD with periodic fever syndrome

- 3-7 days with rash, lymphadenopathy, arthritis and ulcers

Question 4

name the 3 types of inflammatory myositis

Answer 4

1. polymyositis
2. dermatomyositis
3. inclusion body myositis