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4 - Y5 a Path lectures 2021/22 > Immuno 1: Autoimmune and inflammatory diseases > Flashcards

Immuno 1: Autoimmune and inflammatory diseases Flashcards

1
Q

What is Immunopathology? Give some examples

A

damage to the host caused by the immune response

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2
Q

What is Auto-inflammatory or autoimmunity?

What is the difference between auto-inflammatory disease and autoimmune disease? Describe each of these.

A

Auto-inflammatory or autoimmunity = immunopathology in absence of infection

  • If driven by abnormalities in the innate immune system = auto-inflammatory disease
    • inappropriate action of innate immune cells (i.e. macrophage) causing tissue damage
  • If driven by abnormalities in adaptive immune system = auto-immune disease
    • aberrant T and B cell responses in primary and secondary lymphoid organs → breaking of tolerance with development of immune reactivity towards self-antigens
    • adaptive immune response plays the predominant role in expression of clinical disease
    • organ-specific Abs may predate clinical disease by years
    • monogenic diseases are rarer
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3
Q

Are Auto-inflammatory and autoimmunity diseases commonly monogenic or polygenic?

A

more commonly polygenic

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4
Q

Which factors other than DNA sequence can affect protein expression?

A
  • Genetics – mutations in DNA affecting protein sequence
  • Epigenetics – (heritable) changes in gene expression (e.g. via DNA methylation)
  • MicroRNA (miRNA) – small, non-coding, ssRNA – target mRNA and regulate protein production
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5
Q

Is mixed innate and adaptive immunopathology monogenic or polygenic?

A

ONLY polygenic

Remember: Auto-inflammatory (innate) and autoimmunity (adaptive) diseases are more commonly monogenic.

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6
Q

Name some:

  • Rare monogenic autoinflammatory diseases
  • Polygenic autoinflammatory diseases
  • Mixed pattern diseases
  • Polygenic autoimmune diseases
  • Rare monogenic autoimmune diseases
A
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7
Q

What general mutation do monogenic Auto-inflammatory diseases have? Which cytokines are commonly involved in this?

A
  • Mutations in a single gene encoding a protein involved in a pathway associated with innate immune cell function
  • Abnormal signalling via cytokine pathways involving TNFα or IL1 is common
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8
Q

Describe the inflammasome complex (involved in Monogenic Auto-inflammatory disease)

A
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9
Q

Name some Monogenic Auto-inflammatory diseases

A
  • Muckle Wells syndrome
  • Familial cold autoinflammatory syndrome
  • Chronic infantile neurological cutaneous articular syndrome
  • TNF receptor associated periodic syndrome
  • Hyper-IgD with period fever syndrome
  • Familial Mediterranean fever
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10
Q

In Muckle Wells syndrome,

  • which gene is involved?
  • which protein is involved?
  • what is the mode of inheritance?
A
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11
Q

In Familial cold autoinflammatory syndrome,

  • which gene is involved?
  • which protein is involved?
  • what is the mode of inheritance?
A
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12
Q

In Chronic infantile neurological cutaneous articular syndrome,

  • which gene is involved?
  • which protein is involved?
  • what is the mode of inheritance?
A
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13
Q

In TNF receptor associated periodic syndrome,

  • which gene is involved?
  • which protein is involved?
  • what is the mode of inheritance?
A
  • Gene: TNFR-SF1
  • Protein: TNF receptor
  • Inheritance: autosomal dominant
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14
Q

In Hyper-IgD with period fever syndrome,

  • which gene is involved?
  • which protein is involved?
  • what is the mode of inheritance?
A
  • Gene: MK
  • Protein: Mevalonate kinase
  • Inheritance: autosomal recessive
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15
Q

In Familial Mediterranean fever,

  • which gene is involved?
  • which protein is involved?
  • what is the mode of inheritance?
A
  • Gene: MEFV
  • Protein: Pyrin-Marenostrin
  • Inheritance: autosomal recessive
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16
Q

What is the pathogenesis of Familial Mediterranean Fever

A

Autosomal recessive

  • Mutations in MEFV gene → inactivated pyrin-marenostrin (expressed mainly in neutrophils)
  • Increased pro-caspase 1 and increased inflammation driven by… → lots of neutrophils
    • IL-1
    • NFKappaB → TNFa
    • Apoptosis
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17
Q

What is the clinical presenation of Familial Mediterranean Fever?

A

periodic fevers lasting 48-96 hours, associated with

  • Abdominal pain (peritonitis)
  • Chest pain (pleurisy and pericarditis)
  • Arthritis
  • Rash
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18
Q

What is the long term risk of Familial Mediterranean Fever?

How does this occur?

A

Long term risk of AA amyloidosis

  • Liver produces serum amyloid A as acute phase protein
  • This deposits in kidneys, liver, spleen
  • Kidney deposition most clinically important –
    • proteinuria (nephrotic syndrome),
    • renal failure
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19
Q

Name some other associations of AA amyloidosis

A
  • Autoimmune diseases – rheumatoid arthritis, ankylosing spondylitis, IBD (CD & UC)
  • Autoinflammatory diseases – familial Mediterranean fever (FMF), Muckle–Wells syndrome (MWS)
  • Chronic infections – TB, bronchiectasis, chronic osteomyelitis
  • Cancer – Hodgkin’s lymphoma, Renal cell carcinoma
  • Chronic foreign body reaction
  • HIV/AIDS
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20
Q

What is the Tx for Familial Mediterranean Fever?

A
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21
Q

What general mutation do monogenic Auto-inflammatory diseases have?

Which conditions do these functional mutations cause?

A

Mutation in a gene encoding a protein involved in the adaptive immune response

  • Abnormality in tolerance → APS-1/APECED
  • Abnormality of regulatory T cells → IPEX
  • Abnormality of lymphocyte apoptosis → ALPS
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22
Q

What is APS-1/APECED?

A
  • Autoimmune-polyendocrine syndrome type 1 (APS1) or Autoimmune-polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED)*
  • (abnormality in tolerance)*
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23
Q

What is IPEX?

A
  • Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome*
  • (abnormality of T-reg cells)*
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24
Q

What is ALPS?

A
  • Autoimmune lymphoproliferative syndrome*
  • (abnormality of lymphocyte apoptosis)*
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25
Q

What is the mode of inheritance of Autoimmune-polyendocrine syndrome type 1 (APS1) or Autoimmune-polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED)

A

Autosomal recessive disorder

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26
Q

What is the pathogenesis of Autoimmune-polyendocrine syndrome type 1 (APS1) or Autoimmune-polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED?

A
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27
Q

Which autoimmune diseases are involved in Autoimmune-polyendocrine syndrome type 1 (APS1) or Autoimmune-polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED)?

A
  • Hypoparathyroidism[85%]
  • Addison’s[78%]
  • Candidiasis[98%]– anti-IL17 and anti-IL22 antibodies
  • Hypothyroidism [14%]
  • Diabetes [13%]
  • Vitiligo [27%]
  • Enteropathy [22%]
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28
Q

What is the pathogenesis of Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX)?

A
  • Mutations in FOXP3 which is required for development of T-reg cells
  • Failure to negatively regulate T-cell responses → auto-reactive B-cells → autoantibody formation
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29
Q

Which autoimmune diseases are involved in Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX)?

A

‘diarrhoea, dermatitis and diabetes’

o Enteropathy

o Diabetes mellitus

o Dermatitis

o Hypothyroidism

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30
Q

What is the pathogenesis of Autoimmune lymphoproliferative syndrome (ALPS)?

A
  • Mutations in FAS pathway → e.g. mutations in TNFRSF6 to encode FAS (disease heterogenous depending on mutation)
  • Defect in apoptosis of lymphocytes
    • Failure of tolerance
    • Failure of lymphocyte homeostasis
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31
Q

What are the signs and symptoms of Autoimmune lymphoproliferative syndrome (ALPS)

A

lymphocyte (lots), large spleen, lymph nodes, lymphoma (‘double negative cells’ T-cells CD4-ve, CD8 -ve)

  • Lymphocytosis + large spleen + lymph nodes
  • Autoimmune diseases (i.e. autoimmune cytopenias)
  • Lymphoma
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32
Q

What is the general type of mutation in Polygenic Autoinflammatory Diseases?

A

Mutations in genes encoding proteins involved in pathways associated with innate immune cell function

  • Local factors at sites predisposed to disease lead to activation of innate immune cells such as macrophages, neutrophils with resulting tissue damage
  • HLA associations are usually less strong
  • These diseases are not characterised by presence of autoantibodies
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33
Q

Give an example of a Polygenic Autoinflammatory Disease

A

Crohn’s Disease

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34
Q

Which genetic mutations are involved in Crohn’s Disease?

A
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35
Q

What are the clinical features of Crohn’s disease?

A
  • Abdominal pain, tenderness
  • Diarrhoea – blood, pus, mucus
  • Fevers and malaise
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36
Q

What is the Tx for Crohn’s disease?

A
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37
Q

What does this show?

A

Crohn’s disease

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38
Q

What is the general type of mutation in Mixed Pattern Diseases?

A
  • Mutations in genes encoding proteins in pathways of innate immune cell function
  • Mutations in genes encoding proteins in pathways of adaptive immune cell function
    • HLA associations may be present
    • Autoantibodies not usually a feature
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39
Q

Give an example of Mixed Pattern Disease

A

Ankylosing Spondylitis

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40
Q

Which genetic mutations are involved in Ankylosing Spondylitis?

A

Genetic polymorphisms found in >90% (i.e. very heritable)

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41
Q

What are the signs and symptoms of Ankylosing Spondylitis?

A

Increased tendency to inflammation at specific sites of high tensile forces (i.e. entheses)

  • Entheses – sites of insertion of ligaments or tendons, sacroiliitis
  • Presentation
    • Low back pain and stiffness
    • Enthesitis
    • Large joint arthritis
  • Treatment
    • NSAIDs
    • Immunosuppression – anti TNFα or anti IL17
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42
Q

What is the general type of mutation in Polygenic Autoimmune Diseases?

A

Mutations in genes encoding proteins in pathways of adaptive immune cell function

  • HLA associations common → HLA presentation of antigen required for development of aberrant T-cell and T-cell-dependant B-cell responses in primary and secondary lymphoid organs → break of tolerance and development of immune reactivity towards self-antigens
  • Autoantibodies are found
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43
Q

Name some Polygenic Autoimmune Diseases

A
  • Goodpasture disease
  • Graves disease
  • SLE
  • T1DM
  • Rheumatoid arthritis
  • Myaesthenia Gravis
  • Primary biliary cholangitis
  • Pernicious anaemia
  • Addison disease
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44
Q

In polygenic autoimmune diseases, name the HLA associations to their relevant diseases

45
Q

Name the genetic polymorphisms that cause T cell activation, and the polygenic autoimmune diseases they are associated with.

46
Q

Describe Gel and Coombs Classification (I-IV)

47
Q

Which type of immunopathology is Gel and Coombs Classification (I-IV) used to classify?

A

Polygenic Autoimmune Diseases (Antibody or T cell mediated)

48
Q

Describe Type 1: immediate hypersensitivity IgE mediated

49
Q

What are the 2 mechanisms of disease in Type 2: antibody reacting with cellular antigen

A

2 mechanisms = destruction OR activation/blockage

50
Q

In polygenic autoimmune disease (Gel and Coombs Type II) name the

a) auto-antigen
b) pathology/symptom

in Goodpasture disease

51
Q

In polygenic autoimmune disease (Gel and Coombs Type II) name the

a) auto-antigen
b) pathology/symptom

in pemphigus vulgaris

52
Q

In polygenic autoimmune disease (Gel and Coombs Type II) name the

a) auto-antigen
b) pathology/symptom

in Graves disease

53
Q

In polygenic autoimmune disease (Gel and Coombs Type II) name the

a) auto-antigen
b) pathology/symptom

in myasthenia gravis

54
Q

In polygenic autoimmune disease (Gel and Coombs Type II) name the

a) antibody

in membranous glomerulonephritis

A

antibody against Phospholipase A2-receptor Type M

55
Q

Describe Type 3: antibody reacting with soluble antigen to form immune complex

56
Q

Describe Type 4: delayed type hypersensitivity - T cell mediated response

57
Q

Name some Polygenic Autoimmune Diseases, the associated autoantigen and quickly summarise the pathology

58
Q

Name some more Polygenic Autoimmune Diseases and their antibodies

59
Q

What are the antibodies in:

  • organ specific disease
  • systemic disease
A
  • Organ specific diseases → organ specific antibodies
  • Systemic diseases → anti-nuclear antibodies
60
Q

Name some organ specific polygenic autoimmune diseases

A
  • Graves disease (hyperthyroidism)
  • Hashimoto’s thyroiditis (hypothyroidism)
  • T1DM
  • Pernicious anaemia
  • Myasthenia Gravis
  • Goodpasture’s disease
  • Rheumatoid Arthritis
61
Q

Name some systemic polygenic autoimmune diseases

A
  • Systemic Lupus Erythematous (SLE)
  • Systemic sclerosis
  • Idiopathic Inflammatory Myopathy
  • Systemic Vasculitis
  • Sjorgen’s syndrome
62
Q

Name the antibodies in some organ specific polygenic autoimmune diseases

A
  • Graves disease (hyperthyroidism)
    • IgG antibodies stimulate TSH receptor (anti-TSH receptor antibody)
  • Hashimoto’s thyroiditis (hypothyroidism)
    • anti-thyroid peroxidase antibodies (TPO) // anti-thyroglobulin antibody
  • T1DM
    • anti-GAD antibody
  • Pernicious anaemia
    • Autoantibodies against intrinsic factor
  • Myasthenia Gravis
    • Autoantibodies against ACh receptors
  • Goodpasture’s disease
    • anti-basement membrane antibodies
  • Rheumatoid Arthritis
    • Antibodies to cyclic citrullinated peptide (Anti CCP Antibody)
    • Rheumatoid factor antibody (an antibody directed against Fc region of human IgG)
63
Q

Name the antibodies in some systemic polygenic autoimmune diseases

A
  • Systemic Lupus Erythematous (SLE)
    • ANA - antinuclear antibodies
    • Anti-dsDNA antibodies
    • Anti-ENA (Extractable Nuclear Antigen) antibodies
    • Anti-topoisomerase antibodies
    • Anti-centromere antibodies
  • Systemic sclerosis
    • ANA - antinuclear antibodies
    • Anti-scl70 antibodies
  • Idiopathic Inflammatory Myopathy
    • ANA - antinuclear antibodies
      • Anti-Jo1 antibodies – anti-aminoacyl transfer RNA synthetase antibody
      • Anti-Mi2
      • Anti-SRP (signal recognition peptide)
  • Systemic Vasculitis
    • ANCA - Anti-Neutrophil Cytoplasmic Antibody
  • Sjorgen’s syndrome
    • ANA - antinuclear antibodies
64
Q

Patient presents with nervousness, palpitations, heat intolerant, diarrhoea, exophthalmos.

What is the diagnosis?

A

Graves disease

65
Q

What is the pathophysiology of Graves disease?

A
  • Excessive production of thyroid hormones
  • Mediated by IgG antibodies which stimulate TSH receptor
  • Stimulating autoantibodies against TSH-receptor bind to receptor, acting as TSH agonists
  • Induce uncontrolled overproduction of thyroid hormones
  • Negative feedback cannot override antibody stimulation
  • T2 hypersensitivity
66
Q

Patient presents with lethargy, dry skin and hair, constipation, cold intolerant.

What is the diagnosis?

A

Hashimoto’s thyroiditis (hypothyroidism)

67
Q

What is the pathophysiology of Hashimoto’s thyroiditis

A
  • Commonest cause of hypothyroidism in iodine-replete areas
  • Goitre – enlarged thyroid infiltrated by T and B cells
  • Associated with anti-thyroid peroxidase antibodies (TPO)
    • Presence correlates with thyroid damage and lymphocyte inflammation
    • Shown to induce damage to thyrocytes
  • Associated with presence of anti-thyroglobulin antibodies
  • Not useful to measure anti-TG and anti-TPO antibodies as there is a high prevalence in the normal population with no symptoms → just do thyroid biochemistry
  • T2 and T4 hypersensitivity
68
Q

8yo patient presents with thirst, polyuria, malaise, urine dip confirms glycosuria.

What is the diagnosis?

69
Q

What is the pathophysiology of T1DM?

70
Q

Patient presents with tired, pale, mild numbness of feet. Anaemic (Hb 8.4), macrocytosis (MCV 108), urine dip negative (so not diabetes), folate normal, Vitamin B12 very low/

What is the diagnosis?

A

Pernicious Anaemia

71
Q

What is the pathophysiology of pernicious anaemia?

A
  • Autoantibodies against intrinsic factor → no absorption of vitamin B12 → pernicious anaemia and SCDC
    • Vit B12 deficiency → macrocytosis, fatigue, anaemia, pallor, etc.
    • Sub-acute Combined Degeneration of the Cord / SCDC → peripheral neuropathy, optic neuropathy
  • Antibodies to gastric parietal cells or intrinsic factor are useful in Dx
  • T2 reaction
72
Q

Patient presents with drooping eyelids, weakness particularly on repetitive activity, symptoms worse at end of day.

What is the diagnosis?

A

Myasthenia Gravis

73
Q

What is the pathophysiology of Myasthenia Gravis?

74
Q

Patient presents with 48yo man, haemoptysis with widespread crackles in lungs, swelling of legs and reduced urine output. Creatinine 472, microscopic haematuria and proteinuria, CXR – widespread shadowing, elevated TLCO suggesting pulmonary haemorrhage.

TLCO = Transfer capacity of the Lung for the uptake of Carbon Monoxide

What further Ix must be done for the diagnosis?

A
  • Anti-neutrophil cytoplasmic antibody -ve
  • Anti-basement membrane antibody +ve
  • Crescentic nephritis on biopsy
75
Q

Summarise goodpasture’s disease

A
  • See picture for test and outcome
    • “Smooth linear deposition”
  • Can also use tissue sections
  • T2 reaction
76
Q

pain, stiffness and swelling of multiple small joints within hands, normochromic anaemia, high ESR, CRP

What is the diagnosis?

A

Rheumatoid Arthritis

77
Q

What is the genetic pathophysiology of Rheumatoid Arthritis?

78
Q

What is the environmental pathophysiology of Rheumatoid Arthritis?

79
Q

Which antibodies are involved in rheumatoid arthritis? Explain

80
Q

Explain B and T cell involvement in rheumatoid arthritis

81
Q

What do all systemic autoimmune diseases have in common? How are they tested for?

A
  • Characterised by presence of anti-nuclear antibodies (ANA)
  • Very common
  • Test by staining of Hep2 cells
82
Q

19yo female, 4m history of fatigue, generalised arthralgia particularly small joints of hands, hair loss, mouth ulcers, butterfly rash

What is the diagnosis?

A

Systemic Lupus Erythematous (SLE)

83
Q

Summarise the manifestations (signs and symptoms) of SLE

A

Multisystemic condition

  • CNS – seizures
  • Skin – butterfly rash, discoid lupus
  • Heart – endocarditis, myocarditis, serositis, pleuritis, pericarditis
  • Glomerulonephritis
  • Haematological – haemolytic anaemia, leukopenia, thrombocytopenia o Arthritis and lymphadenopathy
84
Q

What is the pathophysiology of SLE?

85
Q

What are the immunological Ix for ?SLE?

86
Q

What are the results of the immunological Ix in SLE?

87
Q

What are some other Ix for ?SLE?

88
Q

Summarise the classical pathway of complement activation

89
Q

What are the different results for complement Ix in SLE?

90
Q

What is anti-phospholipid syndrome? What are the Ix for it?

A
  • Recurrent venous or arterial thrombosis
  • Recurrent miscarriage
  • May occur alone (primary) or in with autoimmune disease (secondary)

Testing

2 major antibodies (both must be tested as 40% patients have discordant antibodies)

  • Anti-cardiolipin antibody
  • Lupus anti-coagulant → cannot be assessed if the patient is on anticoagulant therapy
91
Q

thickening around the mouth, microstomia

What is the diagnosis?

A

Systemic Sclerosis

92
Q

What are the 2 types of systemic sclerosis?

A
  • Diffuse Cutaneous Systemic Sclerosis
  • Limited cutaneous systemic sclerosis (CREST):
93
Q

Summarise the features of Diffuse Cutaneous Systemic Sclerosis

A

CREST features

o GI, pulmonary & renal involvement
o Skin involvement of hands AND PROXIMAL PAST the forearms (unlike CREST)

94
Q

What are the Ix for Diffuse Cutaneous Systemic Sclerosis?

A
  • Anti-scl70 AB
  • RNA polymerase
  • Fibrillarin
  • Nucleolar pattern of immunofluorescence
95
Q

What are the features of Limited cutaneous systemic sclerosis (CREST):

A

ONLY the hands involved (does not spread proximally up the forearms)

o Involves peri-oral skin

o Calcinosis
o Raynaud’s
o Oesophageal dysmotility o Sclerodactyly
o Telangiectasia

o Primary pulmonary HTN

96
Q

What are the Ix for Limited cutaneous systemic sclerosis (CREST)?

A

o Anti-centromere AB

97
Q

weakness, malaise, periorbital heliotropic rash, Gottron’s papules

What is the diagnosis?

A

Idiopathic Inflammatory Myopathy

98
Q

What are the 2 types of ? How do you differentiate between them?

A
  • Dermatomyositis (periorbital rash + Gottron’s papules)
  • Polymyositis (no rash, just weakness, malaise)
99
Q

What is dermatomyosis?

A
  • Within muscle → perivascular CD4 T and B cells
  • Immune complex mediated vasculitis – T3 response
100
Q

What is Polymyositis?

A
  • Within muscle – CD8 T cells surround HLA Class 1 expressing myofibers
  • CD8 cells kill myofibers via perforin/granzymes – T4 response
101
Q

What are the Ix for Idiopathic Inflammatory Myopathy? How do you differentiate between the 2 types via Ix?

102
Q

Summarise the Ix for different types of connective tissue disease

103
Q

54yo woman referred with recurrent nosebleeds and breathlessness. Cavitating pulmonary lesions on CXR

What is the diagnosis?

A

• Small vessel ANCA-associated (systemic vasculitis)

104
Q

54yo woman referred with recurrent nosebleeds and breathlessness. Cavitating pulmonary lesions on CXR

What is the diagnosis?

A

• Small vessel ANCA-associated (systemic vasculitis)

105
Q

What are the different types of systemic vasculitis? Give examples of each

A

Large vessel

  • Takayasu’s arteritis
  • Giant cell arteritis / polymyalgia rheumatica • Medium vessel
  • Polyarteritis nodosa
  • Kawasaki disease

Small vessel ANCA-associated

  • Microscopic polyangiiti
  • Granulomatosis with polyangiitis (Wegener’s → crushed nose)
  • Eosinophilic granulomatosis with polyangiitis (Churg-Strauss)

Small vessel immune complex

  • Anti-GBM disease
  • IgA disease
  • Cryoglobulinemia
106
Q

What is ANCA? How does it cause disease?

A

Anti-Neutrophil Cytoplasmic Antibody

  • Antibodies for antigens located in primary granules within cytoplasm of neutrophils
  • Inflammation → expression of these antigens on cell surface of neutrophils → antibody engagement with cell surface antigens leading to neutrophil activation (T2 hypersensitivity) → activated neutrophils interact with endothelial cells causing damage to vessels → VASCULITIS
  • Different than ANA
107
Q

What are the 3 diseases that are Small vessel vasculitis associated with ANCA?

108
Q

What are the 2 types of ANCA? What are they used for?

4 - Y5 a Path lectures 2021/22 (37 decks)

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