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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
Autoantibodies in Coeliac disease
Anti-tTG and anti-endomysial
26
Autoantibodies in congenital heart block of infants with SLE mothers
Anti-Ro
27
Autoantibodies in Goodpasture's
Anti-GBM
28
Autoantibodies in Grave's
Anti-TSH receptor
29
Autoantibodies in Hashimoto's
Anti-thyroglobulin, Anti-TPO
30
Autoantibodies in Myasthenia Gravis
Anti-ACh receptor
31
Autoantibodies in pernicious anaemia
Anti-gastric parietal (90%), Anti-IF (50%)
32
Autoantibodies in PBC
Anti-mitochondrial antibody
33
Autoantibodies in T1DM
Anti-Glutamate decarboxylase and Anti-pancreatic Beta islet
34
Autoantibodies in Rheumatoid Arthritis
Anti-CCP (most sensitive) Rheumatoid factor
35
Factors that increase citrullinated peptide
Genetic: HLA-DR4, PADI, PTPN22 Smoking Gingivitis
36
Presentation of Rheumatoid arthritis
Symmetrical polyarthritis DIP sparing Hand - Swan neck, Boutonnier's, z-thumb, ulnar deviation Extra-articular - fibrosis, pericardial effusions, rheumatoid nodules
37
Causes of SLE and autoantibodies
Causes - failure of immune clearance (complement deficiency), failure of B cell tolerance Anti-dsDNA, anti-histone, anti-ribosome
38
SLE presentation
SOAP BRAIN MD
39
How can disease severity and progression be monitored
Antibody titre Complement titre - C4 low (active), both low (severe)
40
Pathophysiology of Sjogren's
Anti-Ro, Anti-La Destruction of exocrine glands
41
Sjogren's diagnosis
Dryness and rash Ro and La +ve Schirmer's test +ve
42
Dermatomyositis Antibody
Anti-Jo1
43
Dermatomyositis Sx and Ix
Sx: Dermato - rash (heliotrope eye, macular back), Gottron's papules Myo - proximal myopathy Ix - CK and muscle biopsy
44
Polymyositis antibody
Anti-Jo1
45
Polymyositis Sx and Ix
Sx: diffuse myopathy Resp weakness, GI dysphagia Ix: CK and muscle biopsy
46
Limited cutaneous systemic sclerosis antibody
Anti-centromere
47
Limited cutaneous systemic sclerosis Sx and Ix
Sx: CREST - forearms Ix: immunofluorescence speckled pattern
48
Diffuse cutaneous systemic sclerosis antibody
Anti-Scl70 (anti-topoisomerase)
49
Diffuse cutaneous systemic sclerosis Sx and Ix
Sx: CREST + resp & GI trunk Ix: nucleolar pattern on immunofluorescence
50
GPA (Wegener's) antibody
cANCA against proteinase 3
51
GPA (Wegener's) Sx
URT - nosebleeds LRT - haemoptysis Renal - glomerulonephritis
52
EGPA (Churg-Strauss) Antibody and Sx
pANCA - myeloperoxidase Sx- Asthma (eosinophilic)
53
Microscopic polyangiitis antibody and Sx
pANCA - myeloperoxidase LRT - haemoptysis Renal - glomerulonephritis
54
HLA associations
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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