Immuno 5: Autoinflammatory And Autoimmune Diseases 1 Flashcards

1
Q

What is the difference between auto-inflammatory and auto-immune disease ?

A

Auto-inflammatory: affects innate immune response

Auto-immune: affects adaptive immune response

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Give 1 example of a monogenic auto-inflammatory disease ?

A

Familial Mediterranean fever

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Which gene is mutated in Familial Mediterranean fever ?

How does this cause the disease ?

A

MEFV gene (autosomal recessive)

Causes defect in pyrin-marenostrin protein which causes activation of Neutrophils by cryopyrin to become deregulated.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

How is Familial Mediterranean fever associated with amyloidosis and Nephrotic syndrome ?

A

The inflammation causes the liver to produce acute phase protein: Amyloid

AMyloid deposits in the kidneys causing proteinuria and hence nephrotic syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Name 3 monogenic Auto-immune disease ?

A
APS1 (auto-immune polyendocrine syndrome type 1) (APECED)
IPEX 
ALPS (auto-immune lymphoproliferative syndrome)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What is the main treatment for Familial Mediterranean Fever ?

A

Colchicine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What causes APACED ?

A

Defect in AIRE transcription factor

(Promotes the apoptosis of auto-reactive T cells in the thymus)

Leads to a loss in central tolerance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Name the 2 most common auto-immune conditions seen in APS1 (APECED)?

A

Hypoparathyroidism

Addison’s disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What causes IPEX ?

A

Mutation in Foxp3 gene

Foxp3 is required for development of Treg cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What are the 3 Ds of conditions seen in IPEX ?

A

Diarrhoea
Dermatitis
Diabetes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What causes ALPS ?

A

Mutation in Fas pathway

causes defect in apoptosis of Lymphocytes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

A child is examined and found to have splenomegaly, lymphadenopathy. Her blood tests show a high Lymphocyte count . The professor tells you that this is a monogenic Auto-immune disease and children have an increased risk of Lymphoma. What is the likely diagnosis ?

A

ALPS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Which genetic mutation has been found to be associated with Crohn’s disease ?

A

NOD2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Give 5 examples of polygenic auto-inflammatory diseases ?

A
Crohn’s disease 
Ulcerative colitis 
Osteoarthritis 
Giant cell arteritis 
Takayasu’s arteritis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

List 4 drugs used to treat Crohn’s disease ?

A

Corticosteroids
Azathioprine (steroid sparing)
Anti-TNF alpha antibody
Anti- IL12/23 antibody

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Give 3 example of mixed pattern diseases (auto inflammatory and auto immune) ?

A

Ankylosis spondylitis
Psoriatic arthritis
Behcet’s syndrome

17
Q

Which HLA type is associated with Ankylosing spondylitis ?

A

HLA B27

18
Q

What are the main 2 treatments for Ankylosing spondylitis ?

A

NSAIDS

Anti-TNF alpha antibodies

19
Q

List 6 polygenic Auto-immune diseases ?

A
Rheumatoid arthritis
Myasthenia gravis
Pernicious anaemia 
Addison’s disease 
SLE
PBC (primary biliary cirrhosis)
20
Q

Which diseases are associated with HLA-DR3 polymorphisms ?

A

Graves’ disease
SLE
Type 1 diabetes Mellitus

21
Q

Which diseases are associated with HLA-DR4 polymorphisms ?

A

Type 1 diabetes Mellitus

Rheumatoid arthritis

22
Q

Which disease is associated with HLA-DR15 polymorphisms ?

A

Goodpasture’s disease

23
Q

List 3 areas of immune privilege in the body ?

A

Eyes
Testes
CNS

24
Q

Describe type 1 immune reaction ?

A

Immediate hypersensitivity which is IgE mediated

25
Q

Describe type 2 immune reaction ?

A

Antibody reacts to cellular antigen

26
Q

Describe type 3 immune reaction ?

A

Antibody reacts with soluble antigen to form an immune complex

27
Q

Describe type 4 Immune reaction ?

A

Delayed type hypersensitivity

T cell mediated response

28
Q

These auto-immune diseases are considered to involve Type 2 cytotoxic hypersensitivity.

Match the auto-immune disease with the antigens

Goodpasture disease:::::TSH receptor
Myasthenia Gravis:::::Epidermal Cadherin
Pemphigus Vulgaris:::::basement membrane collagen type IV
Grave’s disease:::::acetylcholine receptor

A

Goodpasture disease:::::basement membrane collagen type IV
Myasthenia Gravis:::::acetylcholine receptor
Pemphigus Vulgaris:::::epidermal Cadherin
Grave’s disease:::::TSH receptor

29
Q

Give examples of regions where Immune complexes deposit and the pathology they cause ?

A

Skin- Cutaneous vasculitis (purpuric rash)
Kidneys- glomerulonephritis/renal failure
Joints- Arthritis

30
Q

Which disease is considered to cause a type 3 hypersensitivity reaction ?

A

SLE

31
Q

Name 2 disease is considered to cause a type 4 hypersensitivity reaction ?

A

Type 1 diabetes mellitus

MS

32
Q

Afrocaribbean boy presents after recurrent chest infections with hypothyroidism, alopecia, gonadal failure and vitiligo. Blood tests show hypocalcaemia.

Most likely diagnosis ?
Which gene is mutated ?

A

APACED

AIRE gene

loss of central immune tolerance of T cells

33
Q

List 4 features of APACED ?

A
  • Hypoparathyroidism
  • Hypothyroidism
  • Addisons
  • DM type 1
  • Vitiligo
  • Alopecia
  • Hypogonadism