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Path guide Immuno > Autoimmune and Autoinflammatory Diseases > Flashcards

Autoimmune and Autoinflammatory Diseases Flashcards

1
Q

Monogenic Autoinflammatory diseases

A

TRAPS
Familial mediterranean fever

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2
Q

Polygenic autoinflammatory diseases

A

IBD - Crohn’s & UC
Osteoarthritis
Arteritides - Giant cell, Takayasu’s

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3
Q

Mixed pattern diseases

A

Ankylosing spondylitis
Psoriatic arthritis
Behcet’s

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4
Q

Polygenic autoimmune diseases

A

Rheumatoid Arthritis
SLE
Myasthenia Gravis
PBC
ANCA vasculitis
Pernicious anaemia
Graves
Goodpasture’s

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5
Q

Monogenic autoimmune diseases

A

ALPS
IPEX
APECED

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6
Q

Monogenic Autoinflammatory Disease pathophysiology

A

Single gene mutation → innate immune dysfunction
Key cytokines: TNF-alpha and IL-1

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7
Q

Familial mediterranean fever genetic pathogenesis

A

Autosomal recessive mutation on MEFV gene → IL-1 & TNF-alpha activation of neutrophils → neutrophils attack body

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8
Q

Clinical presentation of FMF

A

Feel CRAAP = Fever (3-4 days) Chest – pleurisy/pericarditis Rash Arthritis Abdominal Pain - peritonitis

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9
Q

FMF associations

A

AA amyloidosis

Inflammation → liver produces amyloid A (acute phase protein) which deposits in kidney, livers, spleen

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10
Q

FMF Mx

A
  1. Colchicine - binds to neutrophil tubulin → disrupts migration and chemokine production
  2. Anakinra - IL-1R antagonist
  3. Eternacept - TNF-alpha inhibitor
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11
Q

Polygenic Autoinflammatory Disease pathophysiology

A

Multiple mutations → aberrant immune cell function

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12
Q

Main example of polygenic autoinflammatory disease

A

NOD2 (CARD15) mutation on IBD1 gene of chr16 → Crohn’s disease

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13
Q

What does APECED stand for

A

Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy

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14
Q

APECED genetic pathophysiology

A

Autosomal recessive mutation in autoimmune regulator (AIRE) gene → decreased expression of self-antigens by thymic cells and subsequent apoptosis of self-reactive T cells → failure of central tolerance → autoreactive T and B cells

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15
Q

APECED main feature

A

Autoimmune Polyendocrinopathy: Hypothyroid and parathyroid, Addison’s, Diabetes, Vitiligo

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16
Q

What does IPEX stand for?

A

Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked

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17
Q

Genetic pathophysiology of IPEX

A

X-linked recessive mutation in FoxP3 (codes for Treg) → failure of peripheral tolerance and to negatively regulate Treg → autoreactive B cells

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18
Q

IPEX features

A

3 Ds: Diabetes, Diarrhoea, Dermatitis

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19
Q

What does ALPS stand for?

A

Autoimmune Lymphoproliferative Syndrome

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20
Q

Pathophysiology of ALPS

A

Autosomal dominant mutation in Fas pathway → abnormal lymphocyte apoptosis → high lymphocytes, lymphoma, large spleen and LNs, cytopenias

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21
Q

Autoimmune hepatitis antibodies

A

Anti-smooth muscle, Anti-Liver, Kidney microsomal-1 (Anti-LKM-1), Anti-Soluble Liver Antigen (Anti-SLA)

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22
Q

Which Autoantibodies may be deceptively reduced in someone with IgA deficiency

A

Coeliac - Anti-tTG, Anti-endomysial
Dermatitis herpetiormis - Anti-endomysial

23
Q

Autoantibodies in autoimmune haemolytic anaemia

A

Anti-Rh blood group

24
Q

Autoantibodies in Autoimmune Thrombocytopenic Purpura

A

Anti-GPIIb-IIa or Ib-IX

25
Q

Autoantibodies in Coeliac disease

A

Anti-tTG and anti-endomysial

26
Q

Autoantibodies in congenital heart block of infants with SLE mothers

A

Anti-Ro

27
Q

Autoantibodies in Goodpasture’s

A

Anti-GBM

28
Q

Autoantibodies in Grave’s

A

Anti-TSH receptor

29
Q

Autoantibodies in Hashimoto’s

A

Anti-thyroglobulin, Anti-TPO

30
Q

Autoantibodies in Myasthenia Gravis

A

Anti-ACh receptor

31
Q

Autoantibodies in pernicious anaemia

A

Anti-gastric parietal (90%), Anti-IF (50%)

32
Q

Autoantibodies in PBC

A

Anti-mitochondrial antibody

33
Q

Autoantibodies in T1DM

A

Anti-Glutamate decarboxylase and Anti-pancreatic Beta islet

34
Q

Autoantibodies in Rheumatoid Arthritis

A

Anti-CCP (most sensitive)
Rheumatoid factor

35
Q

Factors that increase citrullinated peptide

A

Genetic: HLA-DR4, PADI, PTPN22
Smoking
Gingivitis

36
Q

Presentation of Rheumatoid arthritis

A

Symmetrical polyarthritis
DIP sparing
Hand - Swan neck, Boutonnier’s, z-thumb, ulnar deviation
Extra-articular - fibrosis, pericardial effusions, rheumatoid nodules

37
Q

Causes of SLE and autoantibodies

A

Causes - failure of immune clearance (complement deficiency), failure of B cell tolerance
Anti-dsDNA, anti-histone, anti-ribosome

38
Q

SLE presentation

A

SOAP BRAIN MD

39
Q

How can disease severity and progression be monitored

A

Antibody titre
Complement titre - C4 low (active), both low (severe)

40
Q

Pathophysiology of Sjogren’s

A

Anti-Ro, Anti-La
Destruction of exocrine glands

41
Q

Sjogren’s diagnosis

A

Dryness and rash
Ro and La +ve
Schirmer’s test +ve

42
Q

Dermatomyositis Antibody

A

Anti-Jo1

43
Q

Dermatomyositis Sx and Ix

A

Sx: Dermato - rash (heliotrope eye, macular back), Gottron’s papules
Myo - proximal myopathy
Ix - CK and muscle biopsy

44
Q

Polymyositis antibody

A

Anti-Jo1

45
Q

Polymyositis Sx and Ix

A

Sx: diffuse myopathy
Resp weakness, GI dysphagia
Ix: CK and muscle biopsy

46
Q

Limited cutaneous systemic sclerosis antibody

A

Anti-centromere

47
Q

Limited cutaneous systemic sclerosis Sx and Ix

A

Sx: CREST - forearms
Ix: immunofluorescence speckled pattern

48
Q

Diffuse cutaneous systemic sclerosis antibody

A

Anti-Scl70 (anti-topoisomerase)

49
Q

Diffuse cutaneous systemic sclerosis Sx and Ix

A

Sx: CREST + resp & GI
trunk
Ix: nucleolar pattern on immunofluorescence

50
Q

GPA (Wegener’s) antibody

A

cANCA against proteinase 3

51
Q

GPA (Wegener’s) Sx

A

URT - nosebleeds
LRT - haemoptysis
Renal - glomerulonephritis

52
Q

EGPA (Churg-Strauss) Antibody and Sx

A

pANCA - myeloperoxidase
Sx- Asthma (eosinophilic)

53
Q

Microscopic polyangiitis antibody and Sx

A

pANCA - myeloperoxidase
LRT - haemoptysis
Renal - glomerulonephritis

54
Q

HLA associations

A

HLA B27 - PAIR

HLA DR15/DR2 - Goodpastwo’s

HLA DR3 - Graves (hyperthreeroidism) & SLE (Systemic Lupus erythreematosus)

HLA DR3/DR4 - Type 1 Diabetes Mellitus (pancr34tic)

HLA DR4 - (4 walls in a Rheum)atoid arthritis

HLA DQ2/DQ8 - Coeliac (I 8 2 much)

Path guide Immuno (12 decks)

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