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Immunology > Autoimmune + auto-inflammatory disease > Flashcards

Autoimmune + auto-inflammatory disease Flashcards

1
Q

Monogenic auto-inflammatory disease
Procaspase 1 stimulates IL1 and TNF-alpha production (inflammatory)
+ Cryopyrin stimulates
- Pyrin marenostrinin inhibits

A

Inflammasome pathway

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2
Q

Give two examples of monogenic autoinflammatory disease

A

Familial mediterranean fever

TRAPS

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3
Q

MEFV mutation
Reduced pyrin-Marenostrin
Fevers, peritonitis, pleurisy, arthritis
Inflammation = serum amyloid A deposition in kidneys
Treated with colchicine, or IL-1/TNF-alpha blockade

A

This is Familial Mediterranean Fever (monogenic auto-inflammatory) ~ affects inflammasome pathway
= Mutation in MEFV encoding Pyrin-Marenostrin, which normally acts to inhibit the inflammasome pathway. Therefore there is excessive inflammation which is characterised by fevers, peritonitis, pleurisy + arthritis.
Inflammation increases acute phase proteins - serum amyloid A deposits in kidneys (which leads to nephrotic syndrome + renal failure
COLCHICINE blocks neutrophils (works in most people) - may need to block IL-1 (anakinra) or TNF-alpha (etanercept) directly

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4
Q

TNF-alpha receptor mutation

A

TRAPS (monogenic auto-inflammatory) ~ affects inflammosome pathway

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5
Q

Mutation in Crohn’s disease

A

NOD2/CARD15

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6
Q

Treatment for Crohn’s

A

Steroids + Azathioprine + anti-TNFalpha

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7
Q

Proteins affected in:

Auto-inflammatory vs. mixed pattern vs. auto-immune

A

Innate proteins mutated vs. innate / adaptive proteins vs. adaptive proteins

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8
Q

Give three examples of monogenic AI disease

A

APECED (Autoimmune
IPEX
ALPS

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9
Q

What effect do monogenic AI mutations have?

A

Adaptive immune system

Cause abnormal tolerance, regulatory T cells or lymphocyte apoptosis

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10
Q

AIRE mutation

A

APECED (Autoimmune polyendocrinopathy Candidiasis Ectodermal Dystrophy)
(Think space, AIR …)

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11
Q

Single gene mutation in MEFV affecting inflammosome

Recurrent sinusitis episodes

A

Familial Mediterranean fever

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12
Q

Mutation in FAS pathway

AI cytopenia, Lymphocytosis and lymphomas

A

ALPS (Autoimmune Lymphoproliferative Syndrome)

FASt track to ALL of the ALPS

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13
Q

Single gene mutation in Foxp3

A

IPEX (immmunodysregulation polyendocrinopathy enteropathy X-linked)

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14
Q

Foxp3, X-linked

Diarrhoea, DM, Dermatitis

A

IPEX (immmunodysregulation polyendocrinopathy enteropathy X-linked)
3Xs, 3Ds

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15
Q

Function of Foxp3

A

T reg stimulation

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16
Q

No HLA associations
No autoantibodies
Innate proteins affected

A

Auto-inflammatory

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17
Q

HLA associations
No autoantibodies
Innate + adaptive proteins affected

A

Mixed pattern disease

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18
Q

No HLA assocations
No autoantibodies
Adaptive proteins affected

A

Monogenic auto-immune disease

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19
Q

HLA associations
Antibodies
Adaptive proteins affected
Hypersensitivity classification

A

Polygenic auto-immune disease

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20
Q 
HLA-B27, IL1, IL23
Mixed pattern disease
Inflammation at high tensile sites = bone formation along ligaments
Sacro-iliac back pain + stiffness
NSAIDS, block TNF-alpha
A

Ankylosing spondylitis

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21
Q

Why do HLA polymophisms increase AI disease?

A

Increase antigen presentation to immune cells

22
Q

HLA-B27

A

Ankylosing spondyitis

23
Q

HLA-DR15/2

A

Goodpasture’s

24
Q

HLA-DR3

A

Graves, SLE, T1DM

25
Q

HLA-DR4

A

T1DM, RA

26
Q

HLA-DR3/4

A

T1DM

27
Q

HLA-DQ2/8

A

Coeliac disease (‘Hate 2 8’)

28
Q

Type I
Type 2
Type 3
Type 4

A

1 - Initial exposure: IgE forms + binds mast cells via Fc receptor; subsequent exposure: IgE binds allergen + mast cell degranulates (histamine, serum tryptase)

2 - Antibody binds antigen and destroys / stops function

3 - Antibody binds antigen - forms complexes - deposit in organs

4 - Delayed type - HLA presents (I - CD8 - cell lysis; II - CD4 - inflammation)

29
Q

Anaphylaxis

Atopy

A

Type I

Initial exposure IgE forms and binds mast cells; subsequent exposure IgE binds allergen + mast cell degranulates

30
Q

Pemphigus vulgaris
Goodpasture’s
Graves
MG

A

Type 2

31
Q

Antibody-antigen complexes deposit in organs

A

Type 3

32
Q

SLE

RA

A

Type 3

33
Q

HLA I/II presents to CD8/CD4 to cause lysis/inflammation

A

‘Delayed T-cell type’ 4

34
Q

T1DM

MS

A

Type 4
T1DM = pancreatic B-cell antigen by HLAI
MS = MBP antigen by HLAII

35
Q

What types of hypersensitivity are most common?

A

II > III + IV > I

36
Q

HLA-DR1/4
PAD 2 +4
Anti-CCP
Type 2 (main), type 3 + type 4

A

RA

37
Q

Smooth linear IgG deposition along BM in lung / kidney on fluorescent imaging
Type II hypersensitivity

A

Goodpasture’s

38
Q

Lumpy bumpy complex deposition along BM on fluorescent imaging
Type III hypersensitivty

A

SLE

39
Q

Tensilon test positive

A

Myaesthenia gravis

40
Q

Hypersensitivity types in RA

A 
Type II (IgG against CCP)
Type III (IgM-CCP complexes)
Type IV (T cells target synovial membrane antigens)
41
Q

CREST
Primary pulmonary HTN
No skin involvement beyond forearms
Anti-centromere

A

Limited systemic sclerosis (CREST)

42
Q

CREST + systemic involvement

Anti-Scl70

A

Diffuse systemic sclerosis

43
Q

Skin rash + muscle weakness

Anti-Jo1

A

Dermatomyositis

44
Q

Muscle weakness only

Anti-SRP

A

Myositis

45
Q

Ab against myeloperoxidase

A

pANCA

P = peroxidase

46
Q

Ab against proteinase 3 enzyme

A

cANCA

C= 3

47
Q

pANCA

No granulomas

A

Microscopic polyangiitis

48
Q

cANCA
Granulomas
Triad of GN, saddle nose, pulmonary haemorrhage

A

Granulomatosis with polyangiitis (Wegners)

49
Q

pANCA

Granulomas with eosinophils

A

Eosinophilic granulomatosis with polyangiitis (Churg-Strauss)

50
Q

Is cANCA or pANCA more specific / sensitive?

A

pANCA

51
Q

What are ANCA targetted against?

A

Primary granules in neutrophil cytoplasm

52
Q

Describe the inflammasome pathway

A 
Pro-inflammatory pathway producing TNF-alpha and IL1 to stimulate immune cells
Pyrin marenostrin (-) + Cryopyrin (+) influence Procaspase-1 production which in turn produces TNF-alpha and IL1
Monogenic mutations can lead to inappropriate inflammation (e.g. MEFV mutation in familial mediterranean fever = reduced pyrin marenostrin production by neutrophils; TRAPS is a mutation in TNF alpha receptor)

Immunology (9 decks)

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