Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Path Y > Immunology - Autoinflammatory and autoimmune disorders > Flashcards

Immunology - 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 -causing inactivated 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 5 symptoms of Familial Mediterannean Fever?

A

Periodic fevers of about 2-4 days duration
chest pain (Pleurisy & pericarditis)
abdo pain (peitonitis)
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 why by what mechanism?

A

AA amyloidosis
(specifically kidney deposition as leads to nephrotic syndrome)
because liver produces serum amyloid A as acute phase protein

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 500 micrograms BD
This binds tubulin in neutrophils

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

What is the defect that causes APS-1? give 2 consequences

A

AIRE (autoimmune rgeulator)

  • -> autoreactive B cells
  • -> autoreactive T cells
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

give 2 roles of AIRE?

A

Upregulates expression of self antigen by T cells
promotes T cell apoptosis

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

Give 3 associated conditions of APS-1

A

Auto-immune diseases
Hypoparathyroidism
Addisons
Candidiasis - most common -

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
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
14
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
15
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
16
Q

What is the usual role of FOXP3?

A

Required for regulatory T cell development and function

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

What is the pathophysiology of IPEX?

A

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

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

What are the 3 symptoms of IPEX?

A

3Ds - Diarrhoea, Diabetes, Dermatitis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
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
20
Q

What mutation causes ALPS?

A

Fas pathway mutation

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

What are 4 the symptoms of ALPS?

A

Defect in lymphocyte apoptosis –>
splenomegaly and lymphadenopathy
lymphocytosis
double negative T cells (CD 4 AND C8 -ve)

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

Recall 2 mutations associated with Crohn’s disease

A

IBD1 on chromosome 16
NOD2 (stimulates TNFa)

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

What is the HLA association of ankylosing spondylitis?

A

HLA-B27

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

Where in the body is most affected by ankylosing spondylitis?

A

Areas where there are high tensile forces

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Recall 2 genetic associations of Grave’s disease

A

HLA-DR3
CTLA4

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Recall 3 genetic associations of SLE

A

HLA-DR3
CTLA4
PTPN22

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

What are 2 HLA association of Rheumatoid Arthritis?

A

HLA-DR4
HLA DR1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

What is the HLA association of Goodpasture’s disease?

A

HLA-DR15

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Recall the Gel and Coombs classification of hypersensitivity

A

Type 1: immediate and IgE mediated

Type 2: Antibody to cellular antigen mediated

Type 3: Immune complex mediated

Type 4: Delayed type - T cell mediated

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Recall four type 2 hypersensitivity diseases

A

Grave’s
Goodpasture’s
Pemphigus vulgaris
Myasthaenia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

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

A

Non-collagenous domain of type 4 collagen in the basement membrane
autoantibody = anti GBM (glomerular basement membrane)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

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

A

Cadherin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

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

A

TSH receptor (stimulating)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

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

A

Acetylcholine receptor

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

Recall two examples of type 3 hypersensitivity disorders

A

SLE
Rheumatoid arthritis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

What is rheumatoid factor?

A

Antibody directed against the Fc portion of IgG

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

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

A

PAD enzymes - these are involved in citrullinisation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

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

A

Stain Hep-2 cells with indirect immunofluorescence.

get homogenous pattern

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

Which antibody is most specific for SLE?

A

Anti-dsDNA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

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

A

inactive: both normal
Active: low C4
Severe: both low

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

Which 2 antibody tests should be done to investigate anti-phospholipid syndrome?

A
  1. Lupus anti-coagulant
  2. Anti-cardiolipin
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

What are the 2 types of systemic sclerosis?

A

CREST (limited cutaneous systemic sclerosis)
Diffused cutaneous systemic sclerosis

43
Q

What is the autoantibody involved in CREST?

A

Anti-centromere

44
Q

What is the autoantibody involved in diffuse cutaneous systemic sclerosis?

A

Anti-topoisomerase (Scl70)

45
Q

What are the 6 symptoms of CREST?

A

Calcinosis
Raynaud’s
Esophageal dysmotility
Sclerodactyly
Telangiectasia
PLUS PRIMARY PULMONARY HTN (important)

46
Q

What are the symptoms of diffuse cutaneous systemic sclerosis?

A

Same as CREST, but additionally:

  • More GI disease
  • Interstitial lung disease
  • Renal crisis
47
Q

What are the 2 forms of idiopathic inflammatory myopathy?

A

Dermatomyositis
Polymyositis

48
Q

What is the phrase “helicopter rash” pathognemonic for?

A

Dermatomyositis

49
Q

Recall 2 symptoms of dermatoyositis

A

periorbital Rash
gottron’s papules

50
Q

What is the main symptom of polymyositis?

A

Proximal myopathy
NO rash

51
Q

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

A

ANCA

52
Q

Recall 3 examples of small vessel systemic vasculitides

A
  1. Microscopic polyangiitis
  2. Granulomatosis with polyangiitis
  3. Eosinophilic granulomatosis with poly-angiitis
53
Q

Which of the small vessel vasculitides is associated with cANCA?

A

Granulomatosis with polyangiitis (previously Wegener’s)

54
Q

Which of the small vessel vasculitides is associated with pANCA?

A

Microscopic polyangiitis
Eosinophillic granulomatosis with polyangiitis (previously Churg Strauss)-

EGPA - Patients affected typically have severe allergies or sinus problems, which progress to severe asthma prior to the systemic vasculitis.

It is treated with corticosteroids.

55
Q

What is cANCA?

A

Antibody to proteinase 3

56
Q

What is pANCA?

A

Antibody to myeloperoxidase

57
Q

in addition to colchicine, give 2 drugs that can be used in FMF

A

anakira - IL 1 receptor antagonist
etanercept - TNFalpha inhibitor

58
Q

what 4 things increase in FMF

A

lots of neutrophils so increased
IL 1
NFKappaB to TNFa
apoptosis

59
Q

state 4 monogenic auto immune diseases

A
  1. Familial med fever
  2. Autoimmune polyglandular syndrome type I (APS1) aka APECED
  3. IPEX - Immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome
  4. ALPS - autoimune lymphoprolifertaive syndrome
60
Q

give the abnormalities of IPEX, APS-1 and ALPS

A

IPEX = abnormal Regulation of T cells
APS -1 = abnormality in tolerance
ALPS = abnormality of lymphocyte apoptosis

61
Q

2 drugs for crohns disease

A

corticosteroid (pred)
anti TNFA antibody - infliximab

62
Q

management of crohns

A

diet induced remission (whole protein modular diet)
maintain remission w mesalazine (an aminosalicylate)

63
Q

give an example of a polygenic auto inflammatory disease

A

crohns

64
Q

give an example of a mixed pattern disease

A

ankylosing spondy
typically NO autoantibodies
mixed = innate AND adapative

65
Q

3 symptoms of AS

A

low back pain and stiffness
enthesisits
large joint arthritis

66
Q

define a polygenic autoimmune disease

A

mutationS in genes condoning proteins in pathwayS of ADAPTIVE immune

67
Q

is hashimotos thyroiditis hyper or hypo? what 2 antibodies

A

HYPOthyroidism
anti TPO antibodies (thyroid peroxidase antibodies)
anti thyroglobulin antibodies

68
Q

hashimotos is a combo of what 2 hypersensitivity reaction types

A

type 2 and 4

69
Q

give a type 4 hypersensitivity condition

A

type 1 diabetes

70
Q

1st presentation of T1DM, what 3 things to screen for

A

TFTs
LFTs
coeliac

71
Q

what 2 antibodies in pernicious anaemia? what type of hypersensitivity reaction

A

type 2 hypersen
autoantibodies against intrinsic factor (so can’t absorb B12 - causing pernicious, megalomaniac anaemia & SCDC)
Gastric parietal cell antibodies

72
Q

tensilon test is positive in what type 2 hypersensitivity condition

A

myasthenia gravis

(drooping eyelids, weakness worse on repetition at end of day)

73
Q

what 4 autoantibodies in T1DM

A

they pre date development of disease
anti - glutamic acid decarboxylase (anti GAD)
anti-insulin antibodies
anti islet cell
anti IA 2

74
Q

what polymorphism in RA

A

PTPN22

75
Q

What antibody is most specific for RA

A

anti CCP (cyclic citrullinated peptide)

76
Q

butterfly rash in what condition

A

SLE

77
Q

what other antibody may be found in SLE. give 4 ribonucleoproteins

A

anti ENA (extractable nuclear antigen)

Ro
La
Sm
U1RNP
do NOT need these for diagnosis

78
Q

recurrent miscarriage or VTE seen in what condition?

A

anti phospholipid

79
Q

what skin is involved in CREST

A

hands
peri oral skin

80
Q

what skin is involved in diffuse cutaneous systemic sclerosis

A

hands AND proximal past forearms

81
Q

what type hypersensitivity is dermatomyositis

A

type 3

82
Q

what type of hypersensitivity is polymyositis

A

type 4

83
Q

what ribonuclear proteins in sjogren’s

A

Ro
La

84
Q

give an antibodiy in the myopathies

A

Anti-Jo1
Anti-Mi2 DM>PM
anti SRP -PM

85
Q

state 2 large vessel vasculitis

A

takayasu’s
GCA/polymyalgia rheumatica

86
Q

state 2 medium vessel vasculitis

A

kawasaki
polyarteritis nodosa

87
Q

what is ANA used to screen for vs ANCA

A

ANA - connective tissue diseases
ANCA- small subset of the vasculitides

88
Q

what autoantibody in ITP

A

anti-glycoprotein IIb antibodies

89
Q

what 2 autoantibodies in autoimmune hepatitis

A

anti-liver kidney microsomal-1 antibody and anti-smooth muscle antibody.

90
Q

what autoantibody in Primary Biliary Cirrhosis

A

Anti-Mitochondrial antibody (AMA

Middle aged women are predominantly affected in a ratio of 9:1 F:M.

91
Q

what HLA in coeliac

A

HLA dq2

92
Q

whats Jaccoud’s arthropathy and in what condition

A

condition characterised clinically by ‘reversible’joint deformities such as swan neck, thumb subluxation, ulnar deviation, ‘boutonniere’ and hallux valgus, along with an absence of articular erosions on a plain radiograph.

SLE

93
Q

antibodies against Myelin Basic Protein?

A

multiple sclerosis

94
Q

arteritis reveals a “rosary bead” appearance of small aneurysms = which vasculitis

A

PAN

There may be other signs present, such as livedo reticularis.

If a biopsy is required, a typical site is the Sural nerve (a superficial nerve in the calf of the leg).

95
Q

in addition to anti TTG and anti endomysial, what else should be checked in coeliac

A

Hence, in IgA deficiency (1 in 600 people), they may be falsely negative.

IgA levels should always be assessed at the same time when assessing for coeliac disease.

96
Q

classic presentation of wegeners

A

A rapidly progressive glomerulonephritis in addition to nosebleeds or coughing blood suggests Wegener’s granulomatosis. Nosebleeds suggest Wegner’s - as this is a site classically affected.

As a small-to-medium vessel vasculitis, it may also cause peripheral neuropathy and the elevated CRP is due to the high levels of inflammation. Wegener’s is associated with C-ANCA.

97
Q

electrophoresis shows oligoclonal IgG, what condition

A

multiple sclerosis

98
Q

What specific malignancy are people with Sjogren’s syndrome at greater risk of?

A

malt lymphoma

99
Q

What virus is polyarteritis nodosa associated with?

A

hep b

100
Q

what 3 antibodies in PBC

A

ANA

AMA

p ANCA

101
Q

is pANCA more common in CD or UC

A

UC

102
Q

Which cytokine is important in the pathogenesis of rheumatoid arthritis, anyklosing spondylitis and inflammatory bowel disease?

A

TNFa

103
Q

what susbset of T cells are associated w the transcription of FOXP3

A

T regulatory cels

Path Y (81 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions