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Path Week 2 > I - Autoimmune & Autoinflammatory Diseases > Flashcards

I - Autoimmune & Autoinflammatory Diseases Flashcards

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1
Q

what causes auto inflamm or auto immune diseases

A

immunopathology i nthe absence of infection or pathogens

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2
Q

what part of the immune system is involved in auto inflam conditions

A

innate immune response eg neutrophils / macrophages

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3
Q

what part of the immune system is involved in auto immune conditions

A

adaptive immune response eg T / B cells

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4
Q

define auto immune disease

A

activation of aberrant T / C cell responses on primary and secondary lymphoid organs leading to breaking of tolerance with developmental of immune reactivity towards self antigens

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5
Q

what is characteristic of auto immune disease

A

auto ABs

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6
Q

name 4 ways in which DNA can affect proteins involved in the development of auto immune/inflamm conditions

A

genetic predispostion
somatic mutations occuring after conception
epigenetics
micro RNA

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7
Q

name 2 monogenic auto inflamm diseases

A

familial mediterranean fever
TRAPS

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8
Q

name 5 polygenic auto inflamm diseases

A

Crohns
UC
osteoarthritis
GCA
takayasu’s arteritis

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9
Q

are monogenic or polygenic auto inflamm/immune conditions more common

A

polygenic

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10
Q

name 3 mixed pattern diseases (both auto inflamm and immune)

A

axial spondyloarthritis
Psoriatic arthritis
behcet’s syndrome

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11
Q

name some polygenic auto immune conditions

A

rheumatoid arthritis
myasthenia gravis
pernicious anaemia
graves disease
SLE
PBC
ANCA
Goodpastures

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12
Q

name 2 monogenic auto immune diseases

A

ALPS
IPEX

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13
Q

what pathway problem is most common in monogenic auto inflam disease

A

abnormal signalling via cytokine pathways involving TNF alpha or IL1

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14
Q

Sx of monogenic auto inflamm disease

A

periodic fevers
inflam in joints / skin / CNS
high CRP / ESR
mucosal issues

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15
Q

what gene is abhorrent in FMF

A

MEFV

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16
Q

what is the inheritance of FMF

A

AR

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17
Q

who gets Muckle Wells syndrome (mongenic auto inflam)

A

kids

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18
Q

what protein is abhorrent in FMF

A

pyrin

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19
Q

what is the normal function of pyrin that is absent in FMF

A

negative regulator of inflammasome complex

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20
Q

pathogenesis of FMF

A

MEFV gene mutation
MEFV encodes pyrin-marenostrin (usually expressed in neutrophils)
failure to regulate cryopyrin driven activation of neutrophils

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21
Q

PC of FMF

A

periodic fevers for 48-96 hours
abdo pain - peritonitis
chest pain - pleurisy
arthritis
rash

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22
Q

complications of FMF

A

AA amyloidosis (serum amyloid A depositis in kidneys, liver, spleen) –> kidney failure

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23
Q

Ix for FMF & results

A

CRP - HIGH
serum amyloid A - HIGH
MEFV gene mutation

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24
Q

Tx for FMF

A

1st line = colchicine 500mcg bd
2nd line = IL1 blocker and TNF alpha blocker

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25
what causes IPEX
abnormality of regulatory T cells due to Foxp3 mutation (needed for CD25+ Treg cells development) --> leads to autoreactive B cells
26
what causes ALPS
abnormality of lymphocyte apoptosis due to FAS pathway mutation --> failure of autoreactive B/T cell apoptosis
27
Sx of IPEX
endocrine Sx - DM, hypothyroidism, eczema, enteropathy (gut inflamm)
28
Sx of ALPS
high lymphocyte number splenomegaly large lymph nodes
29
complication of ALPS
lymphoma
30
are HLA associations stronger in auto inflamm or auto immune diseases
auto immune
31
do you get auto antibodies in auto inflam disease
NO
32
gene defect in Crohns
IBD1 gene on Chr 16 (NOD2 aka CARD-15)
33
what % of Crohns pts have CARD 15
30%
34
what is the increased risk of Crohns with someone with CARD-15 gene mutation
1.5 to 3x risk if 1 copy 14-44x risk if 2 copies
35
pathogenesis of Crohns
CARD-15 gene expressed in myeloid cells --> results in failure to clear bacteria leading to inflamm & immune cell activation at sites
36
Sx of Crohns
abdo pain diarrhoea - blood, mucous, pus fevers malaise
37
Tx of Crohns
corticosteroids anti TNF alpha AB
38
do you get auto ABs in mixed pattern auto inflam/immune disease
NO
39
what is the heritability of axial spondyloarthritis (aka ank spon)
90%
40
what genes are involved in development of ank spon
HLA B27 (50% of risk) IL23R ILR2
41
Sx of ank spon
sacroilitis / large joint arthritis enthesitis low back pain and stiffness
42
Tx of ank spon
NSAIDs immunosuppresion - anti TNF alpha and anti IL17
43
are HLA molecules important in auto immune disease
YES
44
what is the susceptibility allele of goodpastures
HLA DR 15
45
what is the susceptibility allele of Graves disease
HLA DR3
46
what is the susceptibility allele of SLE
HLA DR3
47
what is the susceptibility allele of T1DM
HLA DR3/4
48
what is the susceptibility allele of RA
HLA DR4
49
name 2 common mutations in polygenic auto immune disease
PTPN 22 CTLA4
50
describe the pathway of polygenic auto immune disease
genetic polymorphisms --> loss of tolerance --> auto reactive T cells / auto AB formation --> immunopathology
51
what is type 1 hypersensitivity with eg
IgE mediated & immediate eg anaphylaxis
52
what is type 2 hypersensitivity
cytotoxic hypersensitivity - antibody reacts with cellular antigen
53
what is type 3 hypersensitivity
immune complex hypersensitivity - AB reacts with soluble antigen to form immune complex
54
what is type 4 hypersensitivity
delayed type hypersensitivity - t cell mediated response
55
name 4 examples of type 2 hypersensitivity
goodpastures pemphigus vulgaris graves MG
56
auto AB of goodpastures
collagen type 4 of BM
57
auto AB of graves
TSH R
58
auto AB of MG
ACh R
59
Sx of type 3 hypersensitivity reaction
cutaenous vasculitis --> purpura / rash glomerulonephirits arthritis
60
give an example of type 3 hypersensitivity reaction
SLE
61
autoAB in SLE
dsDNA
62
Sx of SLE
rash glomerulonephritis arthritis
63
example of type 4 hypersensitivity reaction
T1DM
64
autoAB in T1DM
pancreatic B cell
65
nervous, palpitations, heat intolerance, diarrhoea, exopthalmos. dx?
graves
66
what Ig mediates graves
IgG
67
can anti TSH R ABs in Graves affect foetus & how
YES - cross placenta to cause transient hyperthyroidism
68
lethargic, dry skin and hair, constipation, cold intolerance, fat face. dx?
hashimotos
69
auto AB in hashimotos
anti TPO / anti thyroglobulin
70
is it useful to test for anti thyroid ABs to diagnose Hasmotos?
NO - lots of ppl will have them but not have Hashimotos, so just check TFTs
71
tired, pale, mild numbness of feet. low Vit b12. Dx?
pernicious anaemia
72
cause of pernicious anaemia
ABs to parietal cells or intrinsic factor --> no absorption of vit B12
73
Tx of pernicious anaemia
B12 injection - not oral as won't absorb
74
what FBC result is seen in pernicious anaemia
macrocytic anaemia
75
anti TTG / anti endomyosial ABs. Dx?
coeliac
76
which IBD has the most auto AB and what is the auto AB
UC > Crohns p-anca
77
anti nuclear ABs. Dx?
autoimmune hepatitis PBC
78
anti SM / anti LKM ABs. Dx?
AI hepatitis
79
anti mitochondrial ABs. Dx?
PBC
80
p-anca ABs. Dx?
AI hepatitis PBC
81
drooping eyelids, weakness, worse at the end of the day. Dx?
MG
82
pathogenesis of MG
ABs against ACh R --> failure of nerve depolarisation --> absence of muscle AP
83
what % of MG pts have anti ACh R ABs
75%
84
haemoptysis and AKI. Dx?
goodpastures
85
where is the auto AB found in goodpastures
lungs /kidneys
86
how is Goodpastures auto AB Ix
kidney biopsy with immunoflurescence
87
conditions with p-anca
ANCA associated vasculitis - micrscopic poluyangiitis - eosinophilic granulomatosis with polyangiitis
88
conditions with c-anca
ANCA associate vasculitis - granulomatosis with polyangiitis
89
what is auto AB in RA
anti CCP - citrulinated peptide
90
what non genetic factors increase risk of RA
smoking gum infections (P. gingivalis)
91
what is the specificity of anti CCP ABs to RA
95%
92
what is the sensitivity of anti CCP ABs to RA
60-70%
93
what is more useful in detection of RA, anti CCP ABs or rheumatoid factor RF
anti CCP - more specific
94
generalised arthralgia, particularly small joints of hand. hair falling out. mouth ulcers. butterfly rash. dx?
SLE
95
process of SLE formation
ABs find to antigen to form immune complexes complexes deposit in skin / joints / kidneys immune complexes activate complement complexes stimulate cells expressing Fc and complement Rs
96
how does immuneflurescence staining of type 2 hypersensitivity (AB mediated) vs type 3 (immune complex) differ
type 3 is lumpy, type 2 is smooth
97
what is the normal AB titre
1:80
98
specificity of dsDNA ABs in SLE
95%
99
sensitivity of dsDNA ABs in SLE
60-70%
100
how does dsDNA AB titre relate to disease progression in SLE and what is the use of this
high titres = more severe disease --> good for disease monitoring
101
what does a low complement C4 level represent in SLE
active disease
102
what 4 Ix are done for monitoring in SLE
anti dsDNA AB C3 / C4 complement ESR
103
recurrent thrombosis / miscarriages. Ix? Dx?
anti-phospholipid ABs: anti-cardolipin, anti-beta2 glycoprotein 1, lupus anti coagulant anti-phospholipid syndrome
104
dry eyes, dry mouth, enlarged parotid gland. Dx?
Sjogrens
105
complication of sjogrens
MALT lymphomas
106
ABs for Sjogrens
anti nuclear AB anti Ro / La
107
Sx for limited cutaneous systemic sclerosis
CREST - calcinosis - raynauds - esophageal dysmotility - sclerodactyly - telangectasia
108
assoication of limited cutaneous systemic sclerosis
primary pulmonary HTN
109
which is worse, limited cutaneous or diffuse systemic sclerosis & why
diffuse - get kidney crises
110
auto ABs for limited cutaneous / diffuse systemic sclerosis
limited cutaneous = anti-centromere diffuse = anti-topoisomerase
111
rash characteristic of dermatomyositis
helitrope rash on knees / forehead
112
contrast dermatomyositis with polymyositis
dermato = skin involved, CD4 poly = no skin involved, CD8
113
AB for dermatomyositis
ANA
114
what enzyme is cANCA associated with
proteinase 3
115
what enzyme is pANCA associated with
myeloperoxidase
116
which small vessel vascultiis is associated with cANCA
GPA
117
which small vessel vascultiis is associated with pANCA
MPA and EGPA

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