Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

PATH by individual lecture > 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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Which type of cell can produce IL1 and NFkappaB?

A

Neutrophil

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What is the role of cryopyrin in inflammation?

A

Induces IL1/NFkB secretion by neutrophils

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is the role of pyrin-marenostin in inflammation?

A

Inhibits IL1/NFkB secretion by neutrophils

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is the inheritance pattern of Familial Mediterannean Fever?

A

Autosomal recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What are the symptoms of Familial Mediterannean Fever?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

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

A

AA amyloidosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What is the treatment for Familial Mediterannean Fever?

A

Colchicine

This binds tubulin on neutrophils

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What is TRAPS?

A

TNF-Receptor Associated Periodic Syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What is the defect that causes APECED?

A

AIRE

  • -> Defect in T cell tolerance
  • -> autoreactive T cells
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What does APECED stand for?

A

Autoimmune PolyEndocrinopathy Cabndidiasis Ectodermal Dystrophy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is the role of AIRE?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What are the symptoms of APECED?

A

Auto-immune diseases - mostly hypoparathyroidism and Addisson’s

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What does IPEX stand for?

A

Immune polyendocrinopathy enteropathy X-linked syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What is the mutation that causes IPEX?

A

FOXP3

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What is the usual role of FOXP3?

A

Required for T reg cell development and function

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What is the pathophysiology of IPEX?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What are the symptoms of IPEX?

A

Diarrhoea, Diabetes, Dermatitis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What does ALPS stand for?

A

Autoimmune Lympho Proliferative Syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What mutation causes ALPS?

A

Fas pathway mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What are the symptoms of ALPS?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Recall 2 mutations associated with Crohn’s disease

25
What is the HLA association of ankylosing spondylitis?
HLA-B27
26
Where in the body is most affected by ankylosing spondylitis?
Areas where there are high tensile forces
27
Recall 2 genetic associations of Grave's disease
HLA-DR3 | CTLA4
28
Recall 3 genetic associations of SLE
HLA-DR3 CTLA4 PTPN22
29
What is the HLA association of Rheumatoid Arthritis?
HLA-DR4
30
What is the HLA association of Goodpasture's disease?
HLA-DR15
31
Recall the Gel and Coombs classification of hypersensitivity
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
Recall 4 type 2 hypersensitivity diseases
Grave's Goodpasture's Pemphigus Myasthaenia
33
Against what is the auto-antibody directed in Goodpasture's disease?
Non-collagenous domain of type 4 collagen in the basement membrane
34
Against what is the auto-antibody directed in pemphigus vulgaris?
Cadherin
35
Against what is the auto-antibody directed in Grave's?
TSH receptor (stimulating)
36
Against what is the auto-antibody directed in myasthaenia gravis?
Acetylcholine receptor
37
Recall 2 examples of type 3 hypersensitivity disorders
SLE | Rheumatoid arthritis
38
What is rheumatoid factor?
Antibody directed against the Fc portion of IgG
39
Mutations in which enzymes are associated with rheumatoid arthritis and why?
PAD enzymes - these are involved in citrullinisation
40
How can you test for anti-nuclear antibody (ANA)?
Stain Hep-2 cells with fluorescent stain
41
Which antibody is most specific for SLE?
Anti-dsDNA
42
Recall the expected C3 and C4 levels in active vs severe SLE
Active: low C4, normal C3 Severe: both low
43
Which antibody tests should be done to investigate anti-phospholipid syndrome?
1. Lupus anti-coagulant 2. Anti-cardiolipin 3. Anti-beta 2 glycoprotein 1
44
What are the 2 types of systemic sclerosis?
CREST (limited cutaneous systemic sclerosis) | Diffused cutaneous systemic sclerosis
45
What is the autoantibody involved in CREST?
Anti-centromere
46
What is the autoantibody involved in diffuse cutaneous systemic sclerosis?
Anti-topoisomerase (Scl70)
47
What are the symptoms of CREST?
``` Calcinosis Raynaud's Esophageal dysmotility Sclerodactyly Telangiectasia PLUS PRIMARY PULMONARY HTN (important) ```
48
What are the symptoms of diffuse cutaneous systemic sclerosis?
Same as CREST, but additionally: - More GI disease - Interstitial lung disease - Renal crisis
49
What are the 2 forms of idiopathic inflammatory myopathy?
Dermatomyositis | Polymyositis
50
What is the phrase "helicopter rash" pathognemonic for?
Dermatomyositis
51
Recall 2 symptoms of dermatoyositis
Rash | Proximal myopathy
52
What is the main symptom of polymyositis?
Proximal myopathy
53
What is the main autoantibody association of small vessel systemic vasculitides?
ANCA
54
Recall 3 examples of small vessel systemic vasculitides
1. Microscopic polyangiitis 2. Granulomatosis with polyangiitis 3. Eosinophilic granulomatosis with poly-angiitis
55
Which of the small vessel vasculitides is associated with cANCA?
Granulomatosis with polyangiitis (previously Wegener's)
56
Which of the small vessel vasculitides is associated with pANCA?
Microscopic polyangiitis | Eosinophillic granulomatosis with polyangiitis (previously Churg Strauss)
57
What is cANCA?
Antibody to proteinase 3
58
What is pANCA?
Antibody to myeloperoxidase

PATH by individual lecture (84 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions