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

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2
Q

Give 1 example of a monogenic auto-inflammatory disease ?

A

Familial Mediterranean fever

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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.

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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

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5
Q

Name 3 monogenic Auto-immune disease ?

A
APS1 (auto-immune polyendocrine syndrome type 1) (APECED)
IPEX 
ALPS (auto-immune lymphoproliferative syndrome)
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6
Q

What is the main treatment for Familial Mediterranean Fever ?

A

Colchicine

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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

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8
Q

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

A

Hypoparathyroidism

Addison’s disease

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9
Q

What causes IPEX ?

A

Mutation in Foxp3 gene

Foxp3 is required for development of Treg cells

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10
Q

What are the 3 Ds of conditions seen in IPEX ?

A

Diarrhoea
Dermatitis
Diabetes

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11
Q

What causes ALPS ?

A

Mutation in Fas pathway

causes defect in apoptosis of Lymphocytes

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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

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13
Q

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

A

NOD2

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14
Q

Give 5 examples of polygenic auto-inflammatory diseases ?

A
Crohn’s disease 
Ulcerative colitis 
Osteoarthritis 
Giant cell arteritis 
Takayasu’s arteritis
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15
Q

List 4 drugs used to treat Crohn’s disease ?

A

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

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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 ?

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
Describe type 2 immune reaction ?
Antibody reacts to cellular antigen
26
Describe type 3 immune reaction ?
Antibody reacts with soluble antigen to form an immune complex
27
Describe type 4 Immune reaction ?
Delayed type hypersensitivity T cell mediated response
28
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
Goodpasture disease:::::basement membrane collagen type IV Myasthenia Gravis:::::acetylcholine receptor Pemphigus Vulgaris:::::epidermal Cadherin Grave’s disease:::::TSH receptor
29
Give examples of regions where Immune complexes deposit and the pathology they cause ?
Skin- Cutaneous vasculitis (purpuric rash) Kidneys- glomerulonephritis/renal failure Joints- Arthritis
30
Which disease is considered to cause a type 3 hypersensitivity reaction ?
SLE
31
Name 2 disease is considered to cause a type 4 hypersensitivity reaction ?
Type 1 diabetes mellitus | MS
32
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 ?
APACED AIRE gene loss of central immune tolerance of T cells
33
List 4 features of APACED ?
- Hypoparathyroidism - Hypothyroidism - Addisons - DM type 1 - Vitiligo - Alopecia - Hypogonadism