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Pathology ICSM > Immunology 5 - Autoinflammatory and autoimmune disorders > Flashcards

Immunology 5 - Autoinflammatory and autoimmune disorders Flashcards

1
Q

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

A

Auto-inflammatory involves innate immune system

Auto-immune involves adaptive immune system

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2
Q

Which type of cell can produce IL1 and NFkappaB?

A

Neutrophil

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3
Q

What is the role of cryopyrin in inflammation?

A

Induces IL1/NFkB secretion by neutrophils

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4
Q

What is the role of pyrin-marenostin in inflammation?

A

Inhibits IL1/NFkB secretion by neutrophils

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5
Q

What is the inheritance pattern of Familial Mediterannean Fever?

A

Autosomal recessive

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6
Q

What is the mutation that causes Familial Mediterannean Fever?

A

MEFV mutation - this is the gene that codes Pyrin-marenostrin (inhibitory of inflammation)
Cryopyrin therefore not opposed

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7
Q

What are the symptoms of Familial Mediterannean Fever?

A

Periodic fevers of about 2-3 days duration
Pleurisy
Arthritis
Rash

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8
Q

What is the long-term risk of Familial Mediterannean Fever?

A

AA amyloidosis

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9
Q

What is the treatment for Familial Mediterannean Fever?

A

Colchicine

This binds tubulin on neutrophils

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10
Q

What is TRAPS?

A

TNF-Receptor Associated Periodic Syndrome

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11
Q

What is the defect that causes APECED?

A

AIRE

  • -> Defect in T cell tolerance
  • -> autoreactive T cells
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12
Q

What does APECED stand for?

A

Autoimmune PolyEndocrinopathy Cabndidiasis Ectodermal Dystrophy

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13
Q

What is the role of AIRE?

A

Upregulates expression of self antigen by the thymus to promote T cell apoptosis

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14
Q

What are the symptoms of APECED?

A

Auto-immune diseases - mostly hypoparathyroidism and Addisson’s

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15
Q

What is the pathophysiology of candida susceptibility in APECED?

A

Auto-antibodies vs IL17 and IL22 are produced, which are interleukins that are important in candida immunity

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16
Q

What does IPEX stand for?

A

Immune polyendocrinopathy enteropathy X-linked syndrome

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17
Q

What is the mutation that causes IPEX?

A

FOXP3

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18
Q

What is the usual role of FOXP3?

A

Required for T reg cell development and function

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19
Q

What is the pathophysiology of IPEX?

A

FOXP3 mutation –> failure to negatively regulate T cell responses –> lots of autoreactive B cells

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20
Q

What are the symptoms of IPEX?

A

Diarrhoea, Diabetes, Dermatitis

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21
Q

What does ALPS stand for?

A

Autoimmune Lympho Proliferative Syndrome

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22
Q

What mutation causes ALPS?

A

Fas pathway mutation

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23
Q

What are the symptoms of ALPS?

A

Defect in lymphocyte apoptosis –> splenomegaly and lymphadenopathy
Autoimmune cytopaenias
Lymphoma

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24
Q

Recall 2 mutations associated with Crohn’s disease

A

IBD1

NOD2

25
Q

What is the HLA association of ankylosing spondylitis?

A

HLA-B27

26
Q

Where in the body is most affected by ankylosing spondylitis?

A

Areas where there are high tensile forces

27
Q

Recall 2 genetic associations of Grave’s disease

A

HLA-DR3

CTLA4

28
Q

Recall 3 genetic associations of SLE

A

HLA-DR3
CTLA4
PTPN22

29
Q

What is the HLA association of Rheumatoid Arthritis?

A

HLA-DR4

30
Q

What is the HLA association of Goodpasture’s disease?

A

HLA-DR15

31
Q

Recall the Gel and Coombs classification of hypersensitivity

A

Type 1: immediate and IgE mediated

Type 2: Antibody to cellular angtigen mediated

Type 3: Immune complex mediated

Type 4: Delayed type - T cell mediated

32
Q

Recall 4 type 2 hypersensitivity diseases

A

Grave’s
Goodpasture’s
Pemphigus
Myasthaenia

33
Q

Against what is the auto-antibody directed in Goodpasture’s disease?

A

Non-collagenous domain of type 4 collagen in the basement membrane

34
Q

Against what is the auto-antibody directed in pemphigus vulgaris?

A

Cadherin

35
Q

Against what is the auto-antibody directed in Grave’s?

A

TSH receptor (stimulating)

36
Q

Against what is the auto-antibody directed in myasthaenia gravis?

A

Acetylcholine receptor

37
Q

Recall 2 examples of type 3 hypersensitivity disorders

A

SLE

Rheumatoid arthritis

38
Q

What is rheumatoid factor?

A

Antibody directed against the Fc portion of IgG

39
Q

Mutations in which enzymes are associated with rheumatoid arthritis and why?

A

PAD enzymes - these are involved in citrullinisation

40
Q

How can you test for anti-nuclear antibody (ANA)?

A

Stain Hep-2 cells with fluorescent stain

41
Q

Which antibody is most specific for SLE?

A

Anti-dsDNA

42
Q

Recall the expected C3 and C4 levels in active vs severe SLE

A

Active: low C4, normal C3
Severe: both low

43
Q

Which antibody tests should be done to investigate anti-phospholipid syndrome?

A
  1. Lupus anti-coagulant
  2. Anti-cardiolipin
  3. Anti-beta 2 glycoprotein 1
44
Q

What are the 2 types of systemic sclerosis?

A

CREST (limited cutaneous systemic sclerosis)

Diffused cutaneous systemic sclerosis

45
Q

What is the autoantibody involved in CREST?

A

Anti-centromere

46
Q

What is the autoantibody involved in diffuse cutaneous systemic sclerosis?

A

Anti-topoisomerase (Scl70)

47
Q

What are the symptoms of CREST?

A 
Calcinosis
Raynaud's
Esophageal dysmotility
Sclerodactyly
Telangiectasia
PLUS PRIMARY PULMONARY HTN (important)
48
Q

What are the symptoms of diffuse cutaneous systemic sclerosis?

A

Same as CREST, but additionally:

  • More GI disease
  • Interstitial lung disease
  • Renal crisis
49
Q

What are the 2 forms of idiopathic inflammatory myopathy?

A

Dermatomyositis

Polymyositis

50
Q

What is the phrase “helicopter rash” pathognemonic for?

A

Dermatomyositis

51
Q

Recall 2 symptoms of dermatoyositis

A

Rash

Proximal myopathy

52
Q

What is the main symptom of polymyositis?

A

Proximal myopathy

53
Q

What is the main autoantibody association of small vessel systemic vasculitides?

A

ANCA

54
Q

Recall 3 examples of small vessel systemic vasculitides

A
  1. Microscopic polyangiitis
  2. Granulomatosis with polyangiitis
  3. Eosinophilic granulomatosis with poly-angiitis
55
Q

Which of the small vessel vasculitides is associated with cANCA?

A

Granulomatosis with polyangiitis (previously Wegener’s)

56
Q

Which of the small vessel vasculitides is associated with pANCA?

A

Microscopic polyangiitis

Eosinophillic granulomatosis with polyangiitis (previously Churg Strauss)

57
Q

What is cANCA?

A

Antibody to proteinase 3

58
Q

What is pANCA?

A

Antibody to myeloperoxidase

Pathology ICSM (85 decks)

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