Auto-inflammatory and AI disorders

Question 1

TRAPS

Answer 1

TNF receptor associated periodic syndrome

Effects TNF receptor

Question 2

Familial Mediterranean fever

Answer 2

Inflammasome complex defect
Excessive inflammation
Periodic fevers lasting 48-96hours

Question 3

APS1

aka APECED

Answer 3

Auto immune polyendocrine syndrome type 1
Auto immune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome

Defect in auto immune regulator - AIRE
Lack of T cell tolerance (attacks self) –> hypoparathyroidism, Addison’s, candidiasis

Question 4

IPEX

Answer 4

Immune dysregulation, polyendocrinopathy, enteropathy

Mutations in Foxp3, required for Treg cell development

Question 5

ALPS

Answer 5

Auto immune lymphoproliferative syndrome
Mutations within FAS pathway
T cels don’t die
Failure of tolerance –> T cells out into periphery to cause auto-immune disease

Commonly AI CYTOPENIAS
May be associated with LYMPHOMA

Question 6

HLA B27
IL23R
ERAP1
ANTXR2
IL2
all associated with

Answer 6

Ank spond
Sacro-iliac joint
Low back pain and stiffness, large joint arthritis, enthesitis (inflammation at sites of insertions of ligaments or tendons), uveitis

Question 7

3 mechanisms of peripheral tolerance for T cells

Answer 7

Anergy - naive T cells require costimulation for full activation from CD28 and CD40L on APCs

Populations of regulatory T cells

Immune privilege - e.g. eye, testes, CNS, not normally exposed to immune system. Protected from immune mediated damage.