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Matt's Path REVERSE > Autoinflammatory > Flashcards

Autoinflammatory Flashcards

1
Q

NLRP3 Gainer mutation

A

Muckle Wells syndrome

Familial cold auto-inflammatory syndrome

Chronic infantile cutaneous articular syndrome

All autosomal dominant - gainer mutation
All encode crypopyrin (stimulates ASC –> procaspase 1 –> IL-1, NfkB)

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2
Q

MEFV gene mutation

A

Familial Mediterranean Fever

MEFV encodes Pyrin-Marenostrin which is a negative regulator of ASC

Autosomal recessive

Loss of Pyrin-Marenostrin leads to increased activation of ASC by cryopyrin –> inflammation in neutrophils

Epidemiology
Sephardic>Ashkenazy Jews
Armenian, Turkish and Arabic people

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3
Q

MK mutation

A

Hyper IgD with periodic fever

MK= Mevanolate kinase

Autosomal recessive

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4
Q

TNFRSF1

A

TNF-associated periodic syndrome

TNF receptor mutation

Autosomal dominant

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5
Q

Muckle wells syndrome

A

Gainer mutation of NLRP3

Encodes NALP3 and Cryopyrin

Autosomal dominant

Leads to increase activity of Cryopyrin which activated ASC and procaspase 1 –> IL-1 and NFkB

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6
Q

Familial cold auto-inflammatory syndrome

A

Gainer mutation of NLRP3

Encodes NALP3 and Cryopyrin

Autosomal dominant

Leads to increase activity of Cryopyrin which activated ASC and procaspase 1 –> IL-1 and NFkB

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7
Q

Chronic infantile neurological cutaneous articular syndrome

A

Gainer mutation of NLRP3

Encodes NALP3 and Cryopyrin

Autosomal dominant

Leads to increase activity of Cryopyrin which activated ASC and procaspase 1 –> IL-1 and NFkB

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8
Q

Familial Mediterranean Fever

A

MEFV mutation

Clinical presentation
Periodic fevers lasting 48-96 hours associated with:
Abdominal pain due to peritonitis
Chest pain due to pleurisy and pericarditis
Arthritis

Long term risk of amyloidosis
Nephrotic syndrome
Renal failure

Treatment
Colchicine 500ug bd - binds to tubulin in neutrophils and disrupts neutrophil functions including migration and chemokine secretion

Anakinra (Interleukin 1 receptor antagonist)
Etanercept (TNF alpha inhibitor)
Type 1 interferon

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9
Q

Auto-immune polyendocrine syndrome type 1 (APS1)

Auto-immune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome / APECED

A

AIRE: Defect in ‘auto-immune regulator’
Transcription factor involved in development of T cell tolerance in the thymus
Upregulates expression of self-antigens by thymic cells
Promotes T cell apoptosis

Antibodies vs parathyroid and adrenal glands Hypoparathyroidism and Addison’s

Antibodies vs IL17 and IL22
Candidiasis

Autosomal recessive disorder

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10
Q

Addison’s
Hypoparathyroidism

Candidiasis

A

Auto-immune polyendocrine syndrome 1

APECED
Autosomal recessive disorder

AIRE Defect in ‘auto-immune regulator
Upregulates self-protein on thymic cells –> promoted T cell apoptosis

Anti-paraythroid and anti-adrenal gland

Anti-IL=17/IL-22 –> candidiasis

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11
Q

Mutations in Foxp3

A

IPEX
Immune dysregulation, polyendocrinopathy, enteropathy, X- linked syndrome

Overwhelming disease leads to early death without treatment

Endocrinopathy
Usually Insulin dependent diabetes mellitus, Thyroid disease

Diarrhoea

Eczematous dermatitis

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12
Q

Mutations in TNFRSF6 which encodes FAS

A

Auto-immune lymphoproliferative syndrome
ALPS

Mutations within FAS pathway
Defect in apoptosis of lymphocytes
Failure of tolerance
Failure of lymphocyte ‘homeostasis’

Auto-immune disease
Commonly auto-immune cytopenias (can be pancytopenias)

High lymphocyte numbers with large spleen and lymph nodes
May be associated with lymphoma

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13
Q

IBD 1-10

A

Crohn’s

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14
Q

IBD1

A

Chromosome 16 identified as NOD2 (CARD-15, caspase activating recruitment domain -15).

Failure to control bacteria adequately means bacteria can go on to trigger other inflammatory pathways  increased inflammation

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15
Q

HLA-B27

IL-23 R

A

Ankylosing spondylitis

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16
Q 
Non-steroidal anti-inflammatory drugs
Immunosuppression
Anti-TNF alpha	
Anti-IL12/ 23p40
Anti-IL17
A

Ankylosing spondylitis

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17
Q

Corticosteroid
Azathioprine
Anti-TNF alpha

A

Crohn’s

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18
Q

HLA -DR15

A

Goodpasture’s

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19
Q

HLA-DR3

A

Graves disease
Systemic lupus erythematosus
Type I diabetes

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20
Q

Hypersensitivity classifications

A

Type I: Immediate hypersensitivity which is IgE mediated

Type II: Antibody reacts with cellular antigen

Type III: Antibody reacts with soluble antigen to form an immune complex

Type IV: Delayed type hypersensitivity…T-cell mediated response

TYPE II /Type V reaction –> modulation response e.g. Graves

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21
Q

Fc region of IgG

Hepatitis C antigens

A

Cryoglobulinaemia

Type III immune complex

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22
Q

Rheumatoid Arthritis

A

HLA DR4
HLA DR1

PTPN22 polymorphism

Polymorphisms affecting TNF, IL1, IL6, IL10

PAD2 and PAD4 polymorphisms

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23
Q

P gingivalis

A

Gum infection with Porphyromonas gingivalis associated with rheumatoid arthritis

P gingivalis is only bacterium known to express PAD enzyme and thus promote citrullination

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24
Q

Anti- Mi2

Anti- SRP

A

idiopathic inflammatory myopathies

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25
dsDNA, Ro, La and Sm
SLE
26
Ro, La
Sjogren's
27
Scl70
Systemic Sclerosis
28
Anti-cardiolipin antibody | Lupus anti-coagulant
Antiphospholipid syndrome | Lupus anticoagulant cannot be assessed i patient is on anticoagulants
29
Beaked nose Telangictasia Radial following Microsomia
Systemic Sclerosis
30
Diffuse Cutaneous Systemic Sclerosis
CREST features More extensive gastrointestinal disease Interstitial pulmonary disease Scleroderma kidney / renal crisis
31
Infiltration around blood vessel | Perivascular infiltration of CD4 T cells and B cells
Dermatomyositis
32
CD8+ T cells surround MHC I expressing myofibres | Get muscle cell necrosis due to release of perforin and granzyme
Polymyositis
33
Jo-1
=Anti-aminoacyl transfer RNA synthetase antibody Dermatomyositis
34
Anti-signal recognition peptide antibody
Polymyositis
35
cANCA
Cytoplasmic fluorescence Associated with antibodies to enzyme proteinase 3 Occurs in > 90% of patients with granulomatous polyangiitis with renal involvement
36
pANCA
Perinuclear staining pattern Associated with antibodies to myeloperoxidase Less sensitive and specific than cANCA Associated with microscopic polyangiitis and eosinophilic granulomatous polyangiitis
37
Muckle Wells syndrome Familial cold auto-inflammatory syndrome Chronic infantile cutaneous articular syndrome All autosomal dominant - gainer mutation All encode crypopyrin (stimulates ASC --> procaspase 1 --> IL-1, NfkB)
NLRP3 Gainer mutation
38
Familial Mediterranean Fever MEFV encodes Pyrin-Marenostrin which is a negative regulator of ASC Autosomal recessive Loss of Pyrin-Marenostrin leads to increased activation of ASC by cryopyrin --> inflammation in neutrophils Epidemiology Sephardic>Ashkenazy Jews Armenian, Turkish and Arabic people
MEFV gene mutation
39
Hyper IgD with periodic fever MK= Mevanolate kinase Autosomal recessive
MK mutation
40
TNF-associated periodic syndrome TNF receptor mutation Autosomal dominant
TNFRSF1
41
Gainer mutation of NLRP3 Encodes NALP3 and Cryopyrin Autosomal dominant Leads to increase activity of Cryopyrin which activated ASC and procaspase 1 --> IL-1 and NFkB
Muckle wells syndrome
42
Gainer mutation of NLRP3 Encodes NALP3 and Cryopyrin Autosomal dominant Leads to increase activity of Cryopyrin which activated ASC and procaspase 1 --> IL-1 and NFkB
Familial cold auto-inflammatory syndrome
43
Gainer mutation of NLRP3 Encodes NALP3 and Cryopyrin Autosomal dominant Leads to increase activity of Cryopyrin which activated ASC and procaspase 1 --> IL-1 and NFkB
Chronic infantile neurological cutaneous articular syndrome
44
MEFV mutation Clinical presentation Periodic fevers lasting 48-96 hours associated with: Abdominal pain due to peritonitis Chest pain due to pleurisy and pericarditis Arthritis Long term risk of amyloidosis Nephrotic syndrome Renal failure Treatment Colchicine 500ug bd - binds to tubulin in neutrophils and disrupts neutrophil functions including migration and chemokine secretion Anakinra (Interleukin 1 receptor antagonist) Etanercept (TNF alpha inhibitor) Type 1 interferon
Familial Mediterranean Fever
45
AIRE: Defect in ‘auto-immune regulator’ Transcription factor involved in development of T cell tolerance in the thymus Upregulates expression of self-antigens by thymic cells Promotes T cell apoptosis Antibodies vs parathyroid and adrenal glands Hypoparathyroidism and Addison’s Antibodies vs IL17 and IL22 Candidiasis Autosomal recessive disorder
Auto-immune polyendocrine syndrome type 1 (APS1) | Auto-immune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome / APECED
46
Auto-immune polyendocrine syndrome 1 APECED Autosomal recessive disorder AIRE Defect in ‘auto-immune regulator Upregulates self-protein on thymic cells --> promoted T cell apoptosis Anti-paraythroid and anti-adrenal gland Anti-IL=17/IL-22 --> candidiasis
Addison's Hypoparathyroidism Candidiasis
47
IPEX Immune dysregulation, polyendocrinopathy, enteropathy, X- linked syndrome Overwhelming disease leads to early death without treatment Endocrinopathy Usually Insulin dependent diabetes mellitus, Thyroid disease Diarrhoea Eczematous dermatitis
Mutations in Foxp3
48
Auto-immune lymphoproliferative syndrome ALPS Mutations within FAS pathway Defect in apoptosis of lymphocytes Failure of tolerance Failure of lymphocyte ‘homeostasis’ Auto-immune disease Commonly auto-immune cytopenias (can be pancytopenias) High lymphocyte numbers with large spleen and lymph nodes May be associated with lymphoma
Mutations in TNFRSF6 which encodes FAS
49
Crohn's
IBD 1-10
50
Chromosome 16 identified as NOD2 (CARD-15, caspase activating recruitment domain -15). Failure to control bacteria adequately means bacteria can go on to trigger other inflammatory pathways  increased inflammation
IBD1
51
Ankylosing spondylitis
HLA-B27 IL-23 R
52
Ankylosing spondylitis
``` Non-steroidal anti-inflammatory drugs Immunosuppression Anti-TNF alpha Anti-IL12/ 23p40 Anti-IL17 ```
53
Crohn's
Corticosteroid Azathioprine Anti-TNF alpha
54
Goodpasture's
HLA -DR15
55
Graves disease Systemic lupus erythematosus Type I diabetes
HLA-DR3
56
Type I: Immediate hypersensitivity which is IgE mediated Type II: Antibody reacts with cellular antigen Type III: Antibody reacts with soluble antigen to form an immune complex Type IV: Delayed type hypersensitivity…T-cell mediated response TYPE II /Type V reaction --> modulation response e.g. Graves
Hypersensitivity classifications
57
Cryoglobulinaemia Type III immune complex
Fc region of IgG | Hepatitis C antigens
58
HLA DR4 HLA DR1 PTPN22 polymorphism Polymorphisms affecting TNF, IL1, IL6, IL10 PAD2 and PAD4 polymorphisms
Rheumatoid Arthritis
59
Gum infection with Porphyromonas gingivalis associated with rheumatoid arthritis P gingivalis is only bacterium known to express PAD enzyme and thus promote citrullination
P gingivalis
60
idiopathic inflammatory myopathies
Anti- Mi2 | Anti- SRP
61
SLE
dsDNA, Ro, La and Sm
62
Sjogren's
Ro, La
63
Systemic Sclerosis
Scl70
64
Antiphospholipid syndrome | Lupus anticoagulant cannot be assessed i patient is on anticoagulants
Anti-cardiolipin antibody | Lupus anti-coagulant
65
Systemic Sclerosis
Beaked nose Telangictasia Radial following Microsomia
66
CREST features More extensive gastrointestinal disease Interstitial pulmonary disease Scleroderma kidney / renal crisis
Diffuse Cutaneous Systemic Sclerosis
67
Dermatomyositis
Infiltration around blood vessel | Perivascular infiltration of CD4 T cells and B cells
68
Polymyositis
CD8+ T cells surround MHC I expressing myofibres | Get muscle cell necrosis due to release of perforin and granzyme
69
=Anti-aminoacyl transfer RNA synthetase antibody Dermatomyositis
Jo-1
70
Polymyositis
Anti-signal recognition peptide antibody
71
Cytoplasmic fluorescence Associated with antibodies to enzyme proteinase 3 Occurs in > 90% of patients with granulomatous polyangiitis with renal involvement
cANCA
72
Perinuclear staining pattern Associated with antibodies to myeloperoxidase Less sensitive and specific than cANCA Associated with microscopic polyangiitis and eosinophilic granulomatous polyangiitis
pANCA

Matt's Path REVERSE (18 decks)

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