Autoimmunity

Question 1

What is the approximate percentage of the world’s population affected with autoimmune disease?

Answer 1

5 percent

Question 2

Where does central tolerance occur?

Answer 2

The B-cell and the T-cell

Question 3

What happens when self tolerance mechanisms fail?

Answer 3

Auto-immune disease

Question 4

Autoimmune disease involves both B and T cells. True or False?

Answer 4

True

Question 5

Autoimmunity mechanisms include those for types 1,2,3 and 4. True or False

Answer 5

False, all but type 1

Question 6

What is epitope spreading?

Answer 6

In response to an original insult, the inflammatory response causes damage, unveils a new epitope against which an immune reaction can be mounted

Question 7

Autoimmunity is caused mainly be genetic factor, True or false

Answer 7

False, autoimmunity is caused by environmental factors as well

Question 8

An example of an autoimmune disease with strong genetic component is _

Answer 8

Diabetes Mellitus type 1

Question 9

The strongest genetic association with autoimmune disease are with _. Genes that predispose to autoimmune disease are usually involved with _

Answer 9

MHC genes

Establishing self tolerance

Question 10

Majority of autoimmune diseases are caused by a single gene defect. True or false

Answer 10

False. These are the minority

Question 11

What is the function of AIRE?

Answer 11

Required to express and present self antigens in the thymus. No AIRE, no self presentation

Question 12

What disease results from defective AIRE?

Answer 12

APECED. Autoimmune PolyEndocrinopathy, Candidiasis, Ectodermal Dystropy

Question 13

What are the symptoms of AIRE?

Answer 13

Hypoparathyroidism
Adrenal Insufficiency
Hypogonadism
(i.e. Multiple endocrine disorders)

Question 14

The major function of FoxP3 is _

Answer 14

Major transcription factor for regulatory T-cells

Question 15

Non-functional FoxP3 leads to _. What are the symptoms?

Answer 15

IPEX (Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked)

• Neonatal diabetes 1, throiditis, diarrhea, dermatitis
• Fatal in year 1

Question 16

What is FAS?

Answer 16

The major apoptosis ligand

Question 17

What disease occurs if FAS is mutated?

Answer 17

ALPS (Autoimmune Lymphoproliferative Syndome)

- Can turn on immune system fine, but can not turn off when no longer sick - Lymphadenopathy

Question 18

What is bystander effect?

Answer 18

APCs activate T-cells in the vicinity of the immune reaction. These T cells can cause disease if specific to self

Question 19

What is molecular mimicry?

Answer 19

Where an antibody to a pathogen ends up recognizing self because of similarity between the 2 proteins

Question 20

SLE is a type _ autoimmune disease? It is most prevalent in what population?

Answer 20

Type III (antibody - antigen deposition all over)
More common in females

Question 21

What genetic factor are implicated in SLE?

Answer 21

Several, including
Complement deficiencies
HLA - DR2/DR3

Question 22

The disease mechanism for SLE is _? What organs are affected?

Answer 22

Ab/Ag deposition all over the body

Virtually all organs are affected

Question 23

2 specific type of Abs are observed in lupus. They are?

Answer 23

Anti-nuclear Ab

Anti-dsDNA Ab (correlates with disease severity)

Question 24

Rash, arthritis, glomerulonephritis, vasculitis, hemolytic anemia, thrombocytopenia, CNS involvement are all associated with _

Answer 24

Lupus

Question 25

Treatment of lupus involves _

Answer 25

Immuno-suppressive medications

Question 26

There are 11 diagnostic criteria related to Lupus. How many have to be met for diagnosis?

Answer 26

4/11

Question 27

RA is the most common inflammatory arthritis. What are 2 risk factors?

Answer 27

Cigarette smoking | HLA DR4

Question 28

The disease mechanism of RA involves _

Answer 28

T-cells and antibodies | Arginine residues converted to citrulline

Question 29

What are the cytokines involved in RA?

Answer 29

IL17, TNA, IL1

Question 30

The clinical features of RA include _ (2)

Answer 30

Symmetrical inflammation of small and large joints | Synovitis

Question 31

Diagnostic tests for RA include _ (2)

Answer 31

``` Rheumatoid factor (IgM against patients IgG) Anti-cyclic citrulline (Anti-CCP) ```

Question 32

Treatment of RA involves? (2)

Answer 32

Glucocorticoids | DMARDs (Disease Modifying Anti-Rheumatic Drugs)

Question 33

Diabetes Mellitus Type 1 is a multisystem metabolic disease. It is characterized by _ distribution

Answer 33

Bimodal (4-6 and 10-14)

Question 34

The disease mechanism of DM type 1 is _. This is mediated by what?

Answer 34

Destruction of pancreatic islet cells | CD4 TH1 cells

Question 35

Why are anti-inflammatory drugs not used for DM type 1?

Answer 35

The damage is already done. No inflammation to treat

Question 36

What are the clinical features of DM type 1? (3)

Answer 36

``` Hyperglycemia / Ketoacidosis Macrovascular complications (atherosclerosis, ischemic necrosis) Microvascular complications (retina, glomeruli) ```

Question 37

The most common disease of neuromuscular transmission is _

Answer 37

Myesthesia Gravis disease

Question 38

The disease mechanism if Myesthesia Gravis is _

Answer 38

Abs against the AchR in the neuromuscular junction. Act as antagonists, cause muscles weakness

Question 39

What type of hypersensitivity is Myesthesia Gravis?

Answer 39

Type 2

Question 40

What type of tumor is usually found along with Myesthesia Gravis? What usually happens when these tumors are removed?

Answer 40

Thymoma | Patients get better

Question 41

Myesthesia Gravis is associated with these clinical features _

Answer 41

Muscle weakness, fatiguability with muscle use

Question 42

What is myesthenic crisis?

Answer 42

When the muscle weakness extends to respiratory muscles, leading to respiratory failure

Question 43

How is myesthenia gravis treated? (4)

Answer 43

Anticholinesterase agents Immunosuppression Immunotherapy (plasma exchange) Thymectomy

Question 44

What is Graves disease?

Answer 44

Thyroid stimulated by anti-TSH receptor (agonists)

Question 45

An aspect of Graves disease that makes it dissimilar from other autoimmune disease is absence of _

Answer 45

Inflammation

Question 46

Graves disease is characterized by Hyperthyroidism. Symptoms include _ (6)

Answer 46

``` Anxiety Tremor Palpitation Heat intolerance Weight loss Proptosis and periorbital swelling ```

Question 47

What is Hashimoto's thyroiditis?

Answer 47

An autoimmune destruction of the thyroid gland, leading to hypothyroidism

Question 48

Symptoms are opposite of hyperthyroidism in graves disease.

Answer 48

Yes

Question 49

Treatment of hypothyroidism is _

Answer 49

Thyroid hormone replacement

Question 50

Why don't the anti-AchR receptors in the Graves disease affect the AchRs in the CNS?

Answer 50

Different subtypes in both locations.