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Immunology Flashcards

1
Q

monogenic disorder

A

single gene defects causing autoimmune diseases are rare

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2
Q

example of a monogenic autoimmune disorder

A

IPEX syndrome

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3
Q

what is IPEX syndrome

A

a fatal X-linked autosomal recessive disorder presenting in early childhood causing immune disregulation, enteropathy & polyendocrinopathy

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4
Q

what are the symptoms of IPEX syndrome?

A 
Very early onset T1DM (before 6 months)
severe malabsorption syndrome
eczema
autoimmune thyroid disease, autoimmune haemolytic anaemia, 
severe infections
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5
Q

what is the pathogenesis of IPEX syndrome?

A

Mutation in FOXP3 gene - essential for the development of regulatory T-cells which are essential in protection against auto-immunity

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6
Q

HLA

A

human leukocyte antigen complex (controls T cells)

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7
Q

what is the susceptibility allele associated with ankylosing spondylitis?

A

HLA B27

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8
Q

what is the susceptibility allele associated with goodpastures syndrome?

A

HLA DR2

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9
Q

what is the susceptibility allele associated with Graves disease?

A

HLA DR3

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10
Q

what is the susceptibility allele associated with SLE?

A

HLA DR3

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11
Q

what is the susceptibility allele associated with T1DM?

A

HLA DR3/DR4

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12
Q

what is the susceptibility allele associated with rheumatoid arthritis?

A

HLA DR4

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13
Q

which class of HLA do all nucleated cells express on the cell surface?

A

class 1

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14
Q

give some examples of class 1 HLA

A

HLA-A
HLA-B
HLA-C

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15
Q

which class of HLA do specialised antigen-presenting cells also express?

A

class 2

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16
Q

give some examples of class 2 HLA

A

HLA-DR
HLADQ
HLA-DP

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17
Q

why is polymorphism of HLA molecules important?

A

to maintain diversity

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18
Q

what are the 3 factors contributing to autoimmune disease?

A

genetics
environment
immune regulation

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19
Q

what pathological classification scheme is used in the classification of autoimmune disease?

A

Gel & Coombs classification

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20
Q

how are autoimmune diseases clinically classified?

A

organ-specific diseases or non-organ specific multi system autoimmune disease

21
Q

what are hypersensitivity reactions?

A

Immune response that results in bystander damage to the self, usually exaggeration of normal immune mechanisms

22
Q

what is the Gel & Coombs classification of hypersensitivity reactions?

A

Type I: Immediate hypersensitivity
Type II: Direct cell killing
Type III: Immune complex mediated
Type IV: Delayed type hypersensitivity

23
Q

what type of hypersensitivity reaction according to Gel & Coombs is SLE?

A

type III

24
Q

what is the fundamental abnormality of SLE?

A

disturbed regulation of B cell activity

25
Q

what is SLE?

A

Prototypic multisystem autoimmune disease

26
Q

which stage of life is frequency the highest?

A

2nd & 3rd decades of life

27
Q

in which sex is SLE more common?

A

females

28
Q

what is SLE characterised by?

A

antibodies to nuclear proteins

29
Q

what does ANA bind to?

A

can bind to many different nuclear components

30
Q

what are speckled antibodies associated with?

A

antibodies to extractable nuclear antigens eg Ro and La

31
Q

which antibodies are more sepcific for SLE & sjorgen’s syndrome the ANA?

A

speckled antibodies

32
Q

what do anti-centromere antibodies bind to?

A

chromosomes (kinetochore)

33
Q

what disease are anti-centromere antibodies very specific for?

A

scleroderma

34
Q

what are auto antigens?

A

proteins associated with nucleolar RNA including fibrillarin, U1RNP

35
Q

what disease are neuclolar ANA associated with?

A

scleroderma

36
Q

what are extractable nuclear antigens?

A

nuclear antigens that are soluble and can be extracted from the nucleus

37
Q

levels of which complements can act as a surrogate marker of disease activity in SLE?

A

C3 & C4

- low levels = high activity

38
Q

what investigations are done for type III hypersensitivity reactions?

A

specific IgG to putative antigen
low serum complements
characteristic biopsy features

39
Q

how are type III hypersensitivity reactions managed?

A

decrease inflammation- corticosteroids

decrease production of antibody - immunosuppressive agents

40
Q

what type of hypersensitivity is rheumatoid arthritis?

A

type IIII

41
Q

what is rheumatoid arthritis?

A

Inflammatory autoimmune disease characterized by the destruction of joint cartilage and inflammation of the synovium

42
Q

what are the clinical features of rheumatoid arthritis?

A

initially: stiffness, pain, swelling, erythema
later: osteoporosis, destruction of joint cartilage, bone resorption, displacement by ankylosing, subcutaenous nodules at pressure points

43
Q

what is the immunopathogenesis of rheumatoid arthritis?

A

Characterised initially by infiltration of synovium by CD4+ T cells
Secondary involvement of activated B cells and antibody

44
Q

what does the histology of the synovium look like in rheumatoid arthritis?

A

Redundant folds of synovial lining and intense infiltration with inflammatory cells

45
Q

which inflammatory mediators have critical roles in the pathogenesis of rheumatoid arthritis?

A

IL1

TNF

46
Q

how do biologicals work?

A

cytokine blockade by blocking the TNF network (anti-TNF)

47
Q

what is a rheumatoid factor?

A

an antibody directed against the common (Fc) region of human IgG

48
Q

what are the major indications for rheumatoid factor testing?

A

evaluating the prognosis of someone with rheumatoid arthritis or diagnosing sjorgen’s syndrome/cryoglobulinaemia

49
Q

what is a more specific test for rheumatoid arthritis then rheumatoid factor?

A

anti-CCP antibody

Musculoskeletal (22 decks)

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