Autoimmune disease

Question 1

What is an autoimmune disease?

Answer 1

Unwanted outcomes of the immune system

A person must have over 20 genes contributing to autoimmunity to develop it

Question 2

Central tolerance

Answer 2

This is the ‘thymic education’ or precursor T cells so that they do not react to the cells of our body

Question 3

Peripheral tolerance

Answer 3

Takes place in the organs 
Eliminate or suppress autoreactive clones that escape the periphery through
A. Clonal deletion
B. Ignorance
C. Anergy
D. Immune regulation

Question 4

Organ specific autoimmunity

Answer 4

Pernicious anaemia

Question 5

Non organ specific autoimmunity

Answer 5

SLE and RA

Question 6

IPEX

Answer 6

Foxp3 gene knockout
Decreased Treg function
X linked
Immunodysregulation and inflammation of the gut and skin
Does not produce enough of IL-35, IL-10 and TGFB and therefore there is an autoimmune response

Question 7

Organ specific autoimmune diseases

Answer 7

Pemphigus vulgaris
Pemphigus foliaceus
Buloses pemphigoid

Question 8

Pemphigus vulgaris

Answer 8

Blistering within the epidermis
Often fatal without GCs
Loss of normal endothelial cell adhesion and detachment of cells in the epidermis
Autoantigen to desmosomes which hold keratinocytes together
C1q and C3c in the skin

Question 9

Pemphigus foliaceus

Answer 9

affects the stratum granulosum
Anti Dsg-1 antibodies
Can resemble eczema
Removes the top layer of skin
Epidemic in rural Brazil due to black flies
Example of molecular mimicry as it cross reacts with desmosomes

Question 10

Sublingual immunotherapy to dust mites

Answer 10

Improves mild/moderate dermatitis

Question 11

Systemic Lupus Erythematous

Answer 11

Multisystem
Often affects young women
Autoantibodies to nuclear antigens (ANA, dsRNA, ENA:RO and others)
Vasculation of joints, kidney, heart and lungs
Bleeding of the vessels
Can get permenant scarring of the skin

Question 12

Triggers of SLE

Answer 12

UV light, infection, exposure to cold

Question 13

Neonatal SLE

Answer 13

Can be transplacentally acquired

Skin rash, anaemia, leukopenia, congenital atrioventricular block

Question 14

How does UV light trigger SLE?

Answer 14

Causes skin cells to apoptose
Uses UV-B and TNF-a
Ro expresses apoptotic blocks
Apoptotic cells aren't cleared properly as there is a defect in C1q
Il-18 induces the apoptosis
Use vitamin D supplements to improve
Belimumab used to treat