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Immu > Immu 1: Autoinflammatory And Autoimmune Diseases 1 > Flashcards

Immu 1: 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 ?

What kind of disease is it?

A

Causes

Defect in AIRE (autoimmune regulator) transcription factor

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

Leads to a loss in central tolerance

What kind of disease

Monogenic Autoimmune Disease

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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 ?

What do pts with this gene also express?

A

Mutation in Foxp3 gene

Foxp3 is required for development of Treg cells

The lack of Treg cells means that these patients fail to negatively regulate T cell responses, leading to autoantibody formation

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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

NB Fas binds to

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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

One of the 3 monogenic autoimmune diseases (APECED, IPEX, ALPS)

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13
Q

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

A

NOD2

This is expressed in the cytoplasm of myeloid cells- macrophages, neutrophils and dendritic cells

Therefore, with the mutation, you get disordered degradation of cellular components which leads to inflammation

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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

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17
Q

Which HLA type is associated with Ankylosing spondylitis ?

A

HLA B27

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18
Q

Presentation of ankyloising spondylitis

A
  • It tends to occur at specific sites where there are high tensile forces- ENTHESES (sites where soft tissue (ligament or tendon) insert to bone) e.g. sacroiliac joint
  • Can get bone formation- often see bamboo spine
  • Low back pain and stiffness
  • Enthesitis i.e. plantar fasciitis, Achilles tendonitis
    *
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19
Q

What are the main 2 treatments for Ankylosing spondylitis ?

A

NSAIDS
Anti-TNF alpha antibodies

20
Q

List 6 polygenic Auto-immune diseases ?

A

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

21
Q

Which diseases are associated with HLA-DR3 polymorphisms ?

A

Graves’ disease
SLE
Type 1 diabetes Mellitus

22
Q

Which diseases are associated with HLA-DR4 polymorphisms ?

A

Type 1 diabetes Mellitus
Rheumatoid arthritis

23
Q

Which disease is associated with HLA-DR15 polymorphisms ?

A

Goodpasture’s disease

24
Q

which two genes are involved in regulating T cell function

A 
PTPN 22 (suppresses T cell activity) 
CTLA 4 (expressed by T cells to suppress activity)
25
Q

List 3 areas of immune privilege in the body ?

A

Eyes
Testes
CNS

26
Q

Describe type 1 immune reaction ?

A

Immediate hypersensitivity which is IgE mediated

27
Q

Describe type 2 immune reaction ?

A

Antibody reacts to cellular antigen

28
Q

Describe type 3 immune reaction ?

A

Antibody reacts with soluble antigen to form an immune complex

29
Q

Describe type 4 Immune reaction ?

A

Delayed type hypersensitivity

T cell mediated response

30
Q

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

Match the auto-immune disease with the antigens that they target

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

31
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

NB this is type 3 hypersensitivity reactions (

32
Q

4 type 2 Antibody-driven Autoimmune Disease

A

Goodpasture disease

Pemphigus vulgaris

Graves disease

Myasthenia gravis

33
Q

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

A

SLE

34
Q

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

A

Type 1 diabetes mellitus
MS
Rheumatoid arthritis

35
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

36
Q

List 4 features of APACED ?

A
  • Hypoparathyroidism
  • Hypothyroidism
  • Addisons
  • DM type 1
  • Vitiligo
  • Alopecia
  • Hypogonadism
37
Q

what is the difference between the mechanisms of autoimmune and auto-inflammatory disease

A

auto-inflammatory = activation of macrophages and neutrophils –> tissue damage (usually localised)

auto-immune = aberrant T and B cell responses in primary and secondary lymphoid organs leads to breaking of tolerance - development of immune-reactivity towards self-antigens

38
Q

list monogenic autoinflammatory disease

A

muckle wells syndrome - NLRP3 gain of function
familial cold auto-inflammatory syndrome - NALP3 gain of function
chronic infantile neurological cutaneous articular syndrome - NLRP3 gain of function

(NLRP3 encoded a protein, cryopyrin, which is involved in the inflammatory pathway)

39
Q

features of familial mediterranean fever

A

autosomal recessive
mutation in MEFV gene
gene encodes pyrin-marenostrin

periodic fevers lasting 48-96 hrs
abdo pain, chest pain, arthritis, rash
associated with long term risk of AA amyloidosis
treat with colchicine 500mg BD

if not successful - use anakinra (IL1 receptor antagonist)
entanercept - TNF alpha inhibitor

40
Q

what is APACED

A

autosomal recessive
defect in AIRE (promotes apoptosis of auto-reactive T cells)
leads to:
- hypoparathyroidism
- addisons disease
- hypothyroidism
- diabetes mellitus
- vitiligo
- enteropathy
predisposition to candidiasis

41
Q

features of IPEX

A

immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
mutation in Foxp3
needed for development of T reg cells
autoantibody formation

  • enteropathy
  • diabetes
  • hypothyroidism
  • dermatitis
42
Q

features of ALPS

A

autoimmune lymphoproliferative syndrome
mutation in the FAS pathway
defect in apoptosis of lymphocytes

high lymphocyte count
large spleen and LN
AI diseases
lymphoma

43
Q

match the susceptibility allele with the disease:

goodpastures
graves
SLE
T1 DM
rheumatoid arthritis

A

goodpastures - HLA DR 15
graves - HLA DR 3
SLE - HLA DR 3
T1 DM - HLA DR 3/4
rheumatoid arthritis - HLA DR4

44
Q

how can we classify different hypersensitivity reactions

A

gel and coombs test
looks at whether a response is antibody of T cell mediated

45
Q

give 2 examples of type III hypersensitivity diseases

A

SLE
rheumatoid arthritis

46
Q

list examples of type 4 hypersensitivity mediated diseases

A

insulin dependent DM
rheumatoid arthritis
MS

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