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Musculoskeletal > Immunology of Autoimmune Disease > Flashcards

Immunology of Autoimmune Disease Flashcards

1
Q

What is a monogenic disorder?

A

A single gene defects causing autoimmune disease

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2
Q

Are monogenic disorders common?

A

No

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3
Q

Give an example of a monogenic disorder

A

IPEX syndrome

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4
Q

What is the presentation of IPEX syndrome?

A
  • Before 6 months of age
  • Type 1 diabetes
  • Severe malabsorption syndrome
  • Eczema
  • Severe infections
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5
Q

What is the pathogenesis of IPEX syndrome?

A

Mutation in FOXp3 gene which is essential for the development of regulatory T cells

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6
Q

How many variants of each HLA molecule does an individual possess?

A

2

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7
Q

What is the allele associated with Ankylosing Spondylitis?

A

HLA-B27

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8
Q

What is the allele associated with Goodpasture’s Syndrome?

A

HLA DR2

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9
Q

What is the allele associated with Graves Disease?

A

HLA DR3

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10
Q

What is the allele associated with Systemic Lupus Erythematous?

A

HLA DR3

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11
Q

What is the allele associated with Type 1 diabetes?

A

HLA DR3/4

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12
Q

What is the allele associated with RA?

A

HLA DR4

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13
Q

At what age and in who does autoimmune disease tend to affect?

A

In females around puberty

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14
Q

What factors contribute to autoimmune disease?

A

Genes, immune regulation, environment

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15
Q

What are the classifications of autoimmune disease?

A

Pathological: Gel and Coombs
Clinical: organ specific or non organ specific

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16
Q

In Gel and Coombs classification, what types are involved?

A

II, III, IV

17
Q

What is an immune complex?

A

Autoantibody + circulating antigen

18
Q

Name a type III Autoimmune disease

A

SLE

19
Q

What is the pathophysiology of SLE?

A
  • Antibodies produced against contents of cell nuclei
  • Form immune complexes
  • Deposited in small vessels in skin, joints, kidneys
  • Complement activation
  • Recruitment of other cells
  • Inflammation
20
Q

What autoimmune diseases are associated with ANA?

A

SLE, scleroderma, Sjogren’s, dermatomyositis/polymyositis, mixed connective tissue disease, autoimmune hepatic disease

21
Q

What % of normal individuals can have a titre of ANA> 1:80

A

5%

22
Q

What is Speckled antibody associated with?

A

SLE and Sjorgrens

-Associated with anti-Ro, anti-LA

23
Q

What are Anti-centromere antibodies specific to?

A

Limited scleroderma

24
Q

What are Nucleolar ANA antibodies specific to?

A

Scleroderma

25
Q

What is Anti-Jo antibody associated with?

A

Polymyositis/Dermatomyositis

26
Q

What is Anti-La associated with?

A

Sjogren’s Syndrome

27
Q

What is anti-RNP associated with?

A

Mixed connective tissue disease and SLE

28
Q

What is Anti-Ro antibody associated with?

A

SLE, maternal anti-Ro associated with Neonatal Lupus and congenital heart block

29
Q

What is Anti-Sm antibody associated with?

A

very specific for SLE

30
Q

What is Anti-Scl 70 associated with?

A

Diffuse scleroderma

31
Q

What is Anti-DNA binding protein associated with?

A

Highly specific for SLE

32
Q

What does a high titre of Anti-DNA antibody indicate?

A

High level of disease activity in SLE

33
Q

What does a low complement measure indicate in SLE?

A

High disease activity as complement is consumed when it is activated

34
Q

Give an example of a Type IV autoimmune disease

A

RA

35
Q

What is the immunopathogenesis of RA?

A
  • Infiltration of synovium by activated CD4 cells
  • Chronic production of inflammatory cytokines in synovium
  • Recruitment of phagocytes
  • Recruitment of activated B cells which produce immunoglobulin
  • TNF and IL-1 are potent stimulators of fibroblasts, osteoclasts, chondrocytes, stimulate release of MMP
  • Additional synovium produced
  • Breakdown of bone and increased vascular formation
  • MMP destroys bone and cartilage
36
Q

What is the histology of synovial fluid in RA?

A

Intimal lining is hyperplastic

37
Q

What % of patients with RA are tested +ve for Rheumatoid Factor at the time of diagnosis?

A

50%

38
Q

After 2 years of having RA, what further % of patients will become seropositive for RF?

A

25%

39
Q

What % of patients will never have Rheumatoid Factor in RA?

A

25%

Musculoskeletal (13 decks)

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