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Year 5 - Pathology ICSM1 > Immunology 5 - Autoinflammatory and autoimmune disorders > Flashcards

Immunology 5 - Autoinflammatory and autoimmune disorders Flashcards

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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 (reduces inflammation)

FMF involves loss of function mutation in MEFV, which encodes pyrin-marenostrin, thus less inhibition of inflammatory cytokines

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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
Autosomal recessive

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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, vitiligo

Auto-immune polyendocrinopathy-candidiasis-ectodermal dystrophy
syndrome (APECED)

Aut recessive

Defect in AIRE

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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

X-linked

‘Diarrhoea, diabetes and
dermatitis’

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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/CARD15

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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)- anti-centromere Diffused cutaneous systemic sclerosis- anti topoisomerase (Scl70)
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) ``` Anti-centromere antibody
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 "heliotropic rash" pathognemonic for?
Dermatomyositis (anti-jo1)
51
Recall 3 symptoms of dermatoyositis
Heliotropic Rash Gottron's papules (on dorsum of finger joints0 Weakness of proximal limb muscles anti-jo1 antibodies
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 (pANCA-anti myeloperoxidase) 2. Granulomatosis with polyangiitis (cANCA-anti proteinase 3) 3. Eosinophilic granulomatosis with poly-angiitis (pANCA- anti myeloperoxidase) ANCA antibodies
55
Which of the small vessel vasculitides is associated with cANCA?
Granulomatosis with polyangiitis (previously Wegener's) Life threatening condition in sever cases-managed by life long corticosteroids/immunosuppresion Often presents with saddle-nose deformity, pulmonary haemmorhage, glomerulonephritis (cANCA stands for cytoplasmic anti-neutrophil cytoplasmic antibodies) cANCA towards proteinase 3 within neutrophil cytoplasm
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
59
Autoimmune antibodies in Rheumatoid arthritis?
``` Anti-CCP (most sensitive) Rheumatoid factor (self IgG directed against IgM) ```
60
Common autoimmune hepatitis autoimmune antibody
anti-smooth muscle (A-SMA)
61
Sjogrens autoimmune antibodies?
Anti-Ro Anti-La Clinical features of sjogrens are dryness of the eyes and mouth, parotid swelling, arthralgia, myalgia, fatigue- due to the destruction of of epithelial cells of exocrine glands
62
Autoimmune antibody in T1DM
Anti-Glutamic acid decarboxylase (Anti-GAD)
63
autoimmune antibodies for coeliac
anti-endomysium anti-ttg anti-gliadin anti-endomysium test is more sensitive

Year 5 - Pathology ICSM1 (85 decks)

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