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Path - Immunology > AutoInflammatory Disease > Flashcards

AutoInflammatory Disease Flashcards

1
Q

What is an auto inflammatory disease?

A

Disease driven by components of the innate immune system

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2
Q

What is an autoimmune disease?

A

Disease driven by components of the adaptive immune system (usually due to breaking of tolerance of B/T cells, leading to development of immune-reactivity towards self antigens)

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3
Q

Which diseases have a function mutation in NLRP3?

A

muckle wells syndrome
Familial cold auto-inflammatory syndrome
Chronic infantile neurological cutaneous articular syndrome

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4
Q

What does the gain of function mutation in NLRP3 lead to?

A

CRYOPYRIN protein formation

CRYOPYRIN is an up regulator in the inflammatory pathway

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5
Q

What mutation occurs in Familial Mediterranean fever?

A

MEFV

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6
Q

What does MEFV mutation encode?

A

Pyrin-Marenostrin (expressed by neutrophils)

This is a negative regulator of the inflammatory pathway

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7
Q

What is the genetic propagation of Familial Mediterranean fever?

A

Autosomal Recessive

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8
Q

What is the clinical presentation of Familial Mediterranean fever?

A

Periodic fevers (48-96 h) due to:

  • abdo pain, due to peritonitis
  • chest pain, due to pleurisy/pericarditis
  • arthritis
  • rash
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9
Q

What disease is Familial Mediterranean fever associated with long term?

A

AA amyloidosis (as the livery produces serum amyloid A as an acute phase protein, which would then deposit in kidneys, liver, spleen)

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10
Q

What is treatment for Familial Mediterranean fever?

A

COLCHICINE 500mg BD

Disrupts neutrophil function)

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11
Q

What other medications can we give for Familial Mediterranean fever?

A

Anakinra

Etanercept

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12
Q

What are the three types of pathogenesis in MONOGENIC autoimmune DISEASE?

A
  • abnormality of tolerance: APS1, APECED
  • abnormality of regulatory T cells - IPEX
  • abnormality of lymphocyte apoptosis - ALPS
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13
Q

What is the aetiology of APECED/APS1

A

Defect in AIRE (transcription factor for development of T cell tolerance in thymus. It upregulates expression of self-antigens by thymic cells which T cells are selected against, and promotes apoptosis of auto-reactive T cells)

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14
Q

What does the defect in AIRE lead to?

A

Failure of central tolerance, release of auto-reactive T cells

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15
Q

What diseases occur in APECED?

A

Hypoparathyroidism
Addisons dsisease
Candisiases

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16
Q

What mutation causes IPEX?

A

Foxp3

17
Q

What is Foxp3 required for?

A

For development of Treg cells (which negatively regulate T cell response)

18
Q

What occurs in IPEX

A

Lack of Treg cells > patients fail to -vely regulate T cell response > AUTOANTIBODY formation > AI disease

19
Q

What are common AI diseases in IPEX?

A

Enteropathy
DM
Hypothyroidism
Dermatitis

20
Q

What mutation causes ALPS?

A

FAS pathway mutation (heterogeneous)

21
Q

What occurs in ALPS?

A

Defect in apoptosis of lymphocytes (as Fas is dysfunctional)

22
Q

What is the clinical phenotype in ALPS?

A

High lymphocyte count
Large spleen and large lymph nodes
AI disease
Lymphoma

23
Q

What is the most known gene mutation for Chron’s?

A

NOD2

24
Q

What kind of genetic disease is Chron’s?

A

Polygenic

25
Q

What are the precipitating factors for Chron’s?

A

Genetic mutations
Epigenetic factors
Micro RNAs

Intestinal Microbiota
Environmental factors e.g. smoking

26
Q

What are the pathological steps in Chron’s?

A

Expression of pro-inflame cytokines and chemokine
Leukocyte recruitment
Release of proteases and free radicals

27
Q

What are the physiological occurrences in Chron’s?

A

Focal inflammation in crypts
Formation of granulomata
Tissue damage with mucosal ulceration

28
Q

What are clinical features of Chrons’

A

Abdo pain, tenderness
Diahrroea (blood, pus, mucous)
Fever, malaise

29
Q

What are Tx for Chrons

A

Corticosteroids
Azathioprine
Anti-TNFalpha
AntiIL12/23

30
Q

What gene mutations is Alk Spond associated to?

A

HLA B27
IL23 Receptor
Interleukin Rezeptor 2

31
Q

What is the normal function of HLA B27?

A

Presents antigen to CD8 T cell

It is the ligand for killer immunoglobulin receptor

32
Q

Where in the body does HLA B27 tend to occur?

A

At sites of high tensile forces (ENTHESES)

33
Q

What is presentation of Alk Spond?

A

Low back pain, stiffness
Enthesistis
Large joint arthritis

34
Q

What is treatment for Alk Spond?

A

NSAID

Immunosuppression (anti-TNF alpha, anti IL17)

35
Q

Explain TI-TIV Hypersensitivity Reactions

A

TI: IgE mediated (+ mast cells)
TII: antibody reacts with cellular antigen
TIII: antibody reacts with soluble antigen to form immune complex
TIV: delayed type (T cell mediated)

36
Q

What are examples of T2 hypersensitive?

A

Goodpastures
Pemphigus Vulgaris
Graves
Myasthenia gravis

37
Q

What are examples of TIII hypersensitivity reactions?

A

SLE

RA

38
Q

What are examples of TIV hypersensitivity reaction?

A

T1DM
RA
MS

39
Q

What are examples of T1 hypersensitivity?

A

Anaphylaxis, atopic asthma

Path - Immunology (11 decks)

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