Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

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

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

Give two examples of monogenic autoinflammatory disease

A

Familial mediterranean fever

TRAPS

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

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

TNF-alpha receptor mutation

A

TRAPS (monogenic auto-inflammatory) ~ affects inflammosome pathway

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

Mutation in Crohn’s disease

A

NOD2/CARD15

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Treatment for Crohn’s

A

Steroids + Azathioprine + anti-TNFalpha

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

Proteins affected in:

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

A

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

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

Give three examples of monogenic AI disease

A

APECED (Autoimmune
IPEX
ALPS

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

What effect do monogenic AI mutations have?

A

Adaptive immune system

Cause abnormal tolerance, regulatory T cells or lymphocyte apoptosis

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

AIRE mutation

A

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

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

Single gene mutation in MEFV affecting inflammosome

Recurrent sinusitis episodes

A

Familial Mediterranean fever

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Mutation in FAS pathway

AI cytopenia, Lymphocytosis and lymphomas

A

ALPS (Autoimmune Lymphoproliferative Syndrome)

FASt track to ALL of the ALPS

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

Single gene mutation in Foxp3

A

IPEX (immmunodysregulation polyendocrinopathy enteropathy X-linked)

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

Foxp3, X-linked

Diarrhoea, DM, Dermatitis

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Function of Foxp3

A

T reg stimulation

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

No HLA associations
No autoantibodies
Innate proteins affected

A

Auto-inflammatory

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

HLA associations
No autoantibodies
Innate + adaptive proteins affected

A

Mixed pattern disease

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

No HLA assocations
No autoantibodies
Adaptive proteins affected

A

Monogenic auto-immune disease

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

HLA associations
Antibodies
Adaptive proteins affected
Hypersensitivity classification

A

Polygenic auto-immune disease

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
HLA-DR4
T1DM, RA
26
HLA-DR3/4
T1DM
27
HLA-DQ2/8
Coeliac disease ('Hate 2 8')
28
Type I Type 2 Type 3 Type 4
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
Anaphylaxis | Atopy
Type I | Initial exposure IgE forms and binds mast cells; subsequent exposure IgE binds allergen + mast cell degranulates
30
Pemphigus vulgaris Goodpasture's Graves MG
Type 2
31
Antibody-antigen complexes deposit in organs
Type 3
32
SLE | RA
Type 3
33
HLA I/II presents to CD8/CD4 to cause lysis/inflammation
'Delayed T-cell type' 4
34
T1DM | MS
Type 4 T1DM = pancreatic B-cell antigen by HLAI MS = MBP antigen by HLAII
35
What types of hypersensitivity are most common?
II > III + IV > I
36
HLA-DR1/4 PAD 2 +4 Anti-CCP Type 2 (main), type 3 + type 4
RA
37
Smooth linear IgG deposition along BM in lung / kidney on fluorescent imaging Type II hypersensitivity
Goodpasture's
38
Lumpy bumpy complex deposition along BM on fluorescent imaging Type III hypersensitivty
SLE
39
Tensilon test positive
Myaesthenia gravis
40
Hypersensitivity types in RA
``` Type II (IgG against CCP) Type III (IgM-CCP complexes) Type IV (T cells target synovial membrane antigens) ```
41
CREST Primary pulmonary HTN No skin involvement beyond forearms Anti-centromere
Limited systemic sclerosis (CREST)
42
CREST + systemic involvement | Anti-Scl70
Diffuse systemic sclerosis
43
Skin rash + muscle weakness | Anti-Jo1
Dermatomyositis
44
Muscle weakness only | Anti-SRP
Myositis
45
Ab against myeloperoxidase
pANCA | P = peroxidase
46
Ab against proteinase 3 enzyme
cANCA | C= 3
47
pANCA | No granulomas
Microscopic polyangiitis
48
cANCA Granulomas Triad of GN, saddle nose, pulmonary haemorrhage
Granulomatosis with polyangiitis (Wegners)
49
pANCA | Granulomas with eosinophils
Eosinophilic granulomatosis with polyangiitis (Churg-Strauss)
50
Is cANCA or pANCA more specific / sensitive?
pANCA
51
What are ANCA targetted against?
Primary granules in neutrophil cytoplasm
52
Describe the inflammasome pathway
``` 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)

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