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Pathology Summaries > IMMUNO: Autoimmune and autoinflammatory conditions > Flashcards

IMMUNO: Autoimmune and autoinflammatory conditions Flashcards

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1
Q

Name 2 monogenic auto-inflammatory conditions.

A

FMF (AR)

TRAPS (AD)

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2
Q

What protein is involved in FMF vs TRAPS?

A 
Pyrin-marenostrin expressed in neutrophils (FMF)
TNF receptor (TRAPS)
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3
Q

What 2 cytokines are most involved in monogenic auto-inflammatory conditions?

A

IL-1 and TNF-alpha

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4
Q

What are 4 parts of body affectedi in FMF?

A

Abdo pain
Arthritis
Chest pain/pleurisy
Rash

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5
Q

What is a complication of FMF?

A

AA amyloid - liver produced

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6
Q

What are 3 tx for FMF?

A

Colchicine - anti-neutrophils
IL-1 blockade
TNF-alpha blockade

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7
Q

Name a monogenic autoimmune disease

A

APS-1/APECED
ALPS
IPEX

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8
Q

What is the defect in ALPS?

A

Abnormal lymphocyte apoptosis -FAS pathway mutation

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9
Q

What is the defect in IPEX?

A

Abnormal Tregs - FoxP3 mutation –> autoreactive B cells

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10
Q

How does IPEX manifest?

A

Diarrhoea, diabetes, dermatitis (also hypothyroidism)

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11
Q

How can ALPS present?

A

large spleen and large lymph nodes + lymphoma

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12
Q

What group does IBD, osteoarthritis and GCA/Takayasu’s fall into?

A

Polygenic autoinflammatory

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13
Q

What mutation is important in Crohn’s?

A

IBD1 gene on Chr16 with NOD2/CARD15

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14
Q

Apart from Crohn’s where is NOD2/CARD15 seen?

A

Blau syndrome and sarcoidosis

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15
Q

What does NOD2 mutation result in?

A

Autophagy in DCs

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16
Q

What are the tx mechanisms for Crohn’s?

A

Corticosteroids

Anti-TNF-alpha ab

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17
Q

Name 3 mixed pattern diseases.

A

Psoriatic arthritis
Behcet’s
Axial spondyloarthritis

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18
Q

What is the most important HLA in AS?

A

HLA-B27 –> presents antigen to CD8 T cells

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19
Q

What tx mechanisms are used for

A

NSAIDs
Anti-TNF-alpha
Anti-IL17

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20
Q

IL23R is also associated with AS, what is its function?

A

Th17 proliferation

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21
Q

What group does SLE, RhA and PBC fall into?

A

Polygenic autoimmune

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22
Q

Name 2 polymorphisms associated with T cell overactivation in polygenic autoimmune conditions.

A

PTPN22

CTLA4

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23
Q

What is HLADR3/4 linked to?

A

T1DM

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24
Q

What is HLADR4 and HLADr1 linked to?

A

RhA

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25
What is HLADR15 linked to?
Goodpasture's
26
What is HLADR3 linked to?
SLE and Grave's
27
What is type II and type IV hypersensitivity?
II = Ab against cellular antigen --> cytotoxic or receptor activation (Graves - although sometimes considered type V) IV= T-cell mediated --> delayed type
28
What type hypersensitivity is pemphigus vulgaris? What is the auto-antigen?
Type II, epidermal cadherin
29
Name 3 other type II autoimmune conditions.
MG Graves Goodpasture's (--> glomerulonephritis + pulm haemorrhage) a.k.a. anti-GBM disease
30
Name a type III autoimmune condition.
SLE
31
Name a type IV autoimmune condition.
T1DM - CD8 T cell attack, antibodies pre-date development of any disease
32
Name 4 ANA related conditions.
SLE Sjogren's Systemic sclerosis Dermato/polymyositis
33
What is the goitre in Hashimoto's infiltrated by?
B and T cells
34
Which Abs are related to damage to thymocytes in Hashimoto's?
Anti-thyroid peroxidase
35
Name 4 autoantibodies in T1 diabetes.
Anti-insulin Anti-islet cell Anti-IA2 Anti-GAD
36
What IBD are pANCA associated with?
UC>Crohn's
37
List 3 Abs associated with autoimmune hepatitis.
Anti-SMA Anti-LKM ANA
38
What Abs are associated with PBS?
Anti-mitochondrial | and pANCA?
39
What are these abs associated with? 1. anti-strational 2. anti-NMDA R 3. anti AQP4 4. anti-MOG
1. MG with myositis 2. encephalitis 3. neuromyelitis optica spectrum disorder 4. optic neuritis, encephalomyelitis
40
Which polymorphisms starting with 'P' are found in RhA?
PAD2, PAD4, PTPN22
41
What are PAD2/4 involved in?
Enzymatic conversion of arginine to citrulline which builds up in RhA --> anti-CCP
42
What increases citrullination in RhA?
Smoking | Porphyromonas gingivalis gum infection (expresses PAD)
43
What type of Ab is RF?
IgM anti-IgG
44
Name 4 things required to test for ANA.
Hep2 cells Patient's serum (with Abs) Anti-human antibody with fluorescent tag UV light
45
Name 3 antibodies against nuclear antigens and 2 antibodies against cytoplasmic antigens in SLE.
``` Nuclear = DNA, histones, snRNP Cytoplasmic = ribosomes, scRNP ```
46
Compare lupus (III) vs Goodpasture's (II) renal disease.
``` Lupus = lumpy bumpy/granular deposition Goodpastures= linear deposition of Ig ```
47
What ANA titres are seen in SLE?
>1:640 (normal 1:80)
48
Name a topoisomerase targeted by ANA.
SCL70
49
What is the 'speckled' ab appearance associated with?
Abs to nuclear antigens e.g. ribonucleoproteins
50
Name some ribonucleoproteins.
Ro, La, Sm, U1RNP (also called anti-ENA i.e. extractable nuclear antigen)
51
Are anti-ENA seen in SLE?
Not usually
52
Which complement is low in active disease vs severe?
Active - only C4 low | Severe - both low
53
Which syndrome is livedo reticularis associated with?
Antiphospholipid
54
What 3 abs are seen in antiphospholipid syndrome?
Anti-cardiolipin Lupus anticoagulant Anti-B2 glycoprotein 1
55
Where does CREST stop?
Does not go beyond forearms (although may involve peri-oral)
56
What systems does limited vs diffuse SS affect?
``` Limited = CREST Diffuse = CREST + pulm + renal + GI ```
57
Which abs are seen in limited vs diffuse SS?
``` Limited = anti-centromere Diffuse = Scl70, RNA polymerase, fibrillarin ```
58
What is dermatomyositis and polymyositis collectively known as?
Idiopathic inflammatory myopathy
59
In which IIM do CD8 T cells target myofibres via perforin/granzymes?
Polymyositis
60
In which IIM are perivascular CD4 and B cells seen with immune complex vasculitis?
Dermatomyositis
61
What abs are in the extended myositis panel?
Anti: - amino-acyl transfer RNA synthase e.g. anti-Jo - signal recognition peptide antibody - Mi2
62
Is anti-Mi2 more common in dermato or polymyositis?
Dermatomyositis
63
How does anti-Jo stain?
Cytoplasmic
64
Where is anti-Sm ab seen?
SLE
65
Where is anti-RNP seen?
SLE and mixed connective tissue disease(like Sjogren's etc)
66
Name a mixed vessel vasculitis.
Behcet's
67
Name a medium vessel vasculitis.
Kawasaki and PAN
68
Which small vessel vasculitis is associated with cytoplasmic fluorescence? Which Ab?
Proteinase 3 - cANCA i.e. eGPA, MPA
69
Which small vessel vasculitis is associated with perinuclear fluorescence? Which Ab?
Myeloperoxidase - pANCA i.e. GPA

Pathology Summaries (23 decks)

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