Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

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)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

MK mutation

A

Hyper IgD with periodic fever

MK= Mevanolate kinase

Autosomal recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

TNFRSF1

A

TNF-associated periodic syndrome

TNF receptor mutation

Autosomal dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

IBD 1-10

A

Crohn’s

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

HLA-B27

IL-23 R

A

Ankylosing spondylitis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q 
Non-steroidal anti-inflammatory drugs
Immunosuppression
Anti-TNF alpha	
Anti-IL12/ 23p40
Anti-IL17
A

Ankylosing spondylitis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Corticosteroid
Azathioprine
Anti-TNF alpha

A

Crohn’s

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

HLA -DR15

A

Goodpasture’s

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

HLA-DR3

A

Graves disease
Systemic lupus erythematosus
Type I diabetes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Fc region of IgG

Hepatitis C antigens

A

Cryoglobulinaemia

Type III immune complex

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Rheumatoid Arthritis

A

HLA DR4
HLA DR1

PTPN22 polymorphism

Polymorphisms affecting TNF, IL1, IL6, IL10

PAD2 and PAD4 polymorphisms

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Anti- Mi2

Anti- SRP

A

idiopathic inflammatory myopathies

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

dsDNA, Ro, La and Sm

A

SLE

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Ro, La

A

Sjogren’s

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Scl70

A

Systemic Sclerosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Anti-cardiolipin antibody

Lupus anti-coagulant

A

Antiphospholipid syndrome

Lupus anticoagulant cannot be assessed i patient is on anticoagulants

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Beaked nose
Telangictasia
Radial following Microsomia

A

Systemic Sclerosis

30
Q

Diffuse Cutaneous Systemic Sclerosis

A

CREST features
More extensive gastrointestinal disease
Interstitial pulmonary disease
Scleroderma kidney / renal crisis

31
Q

Infiltration around blood vessel

Perivascular infiltration of CD4 T cells and B cells

A

Dermatomyositis

32
Q

CD8+ T cells surround MHC I expressing myofibres

Get muscle cell necrosis due to release of perforin and granzyme

A

Polymyositis

33
Q

Jo-1

A

=Anti-aminoacyl transfer RNA synthetase antibody

Dermatomyositis

34
Q

Anti-signal recognition peptide antibody

A

Polymyositis

35
Q

cANCA

A

Cytoplasmic fluorescence
Associated with antibodies to enzyme proteinase 3
Occurs in > 90% of patients with granulomatous polyangiitis with renal involvement

36
Q

pANCA

A

Perinuclear staining pattern
Associated with antibodies to myeloperoxidase
Less sensitive and specific than cANCA
Associated with microscopic polyangiitis and eosinophilic granulomatous polyangiitis

37
Q

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)

A

NLRP3 Gainer mutation

38
Q

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

A

MEFV gene mutation

39
Q

Hyper IgD with periodic fever

MK= Mevanolate kinase

Autosomal recessive

A

MK mutation

40
Q

TNF-associated periodic syndrome

TNF receptor mutation

Autosomal dominant

A

TNFRSF1

41
Q

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

A

Muckle wells syndrome

42
Q

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

A

Familial cold auto-inflammatory syndrome

43
Q

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

A

Chronic infantile neurological cutaneous articular syndrome

44
Q

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

A

Familial Mediterranean Fever

45
Q

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

A

Auto-immune polyendocrine syndrome type 1 (APS1)

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

46
Q

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

A

Addison’s
Hypoparathyroidism

Candidiasis

47
Q

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

A

Mutations in Foxp3

48
Q

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

A

Mutations in TNFRSF6 which encodes FAS

49
Q

Crohn’s

A

IBD 1-10

50
Q

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

A

IBD1

51
Q

Ankylosing spondylitis

A

HLA-B27

IL-23 R

52
Q

Ankylosing spondylitis

A 
Non-steroidal anti-inflammatory drugs
Immunosuppression
Anti-TNF alpha	
Anti-IL12/ 23p40
Anti-IL17
53
Q

Crohn’s

A

Corticosteroid
Azathioprine
Anti-TNF alpha

54
Q

Goodpasture’s

A

HLA -DR15

55
Q

Graves disease
Systemic lupus erythematosus
Type I diabetes

A

HLA-DR3

56
Q

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

A

Hypersensitivity classifications

57
Q

Cryoglobulinaemia

Type III immune complex

A

Fc region of IgG

Hepatitis C antigens

58
Q

HLA DR4
HLA DR1

PTPN22 polymorphism

Polymorphisms affecting TNF, IL1, IL6, IL10

PAD2 and PAD4 polymorphisms

A

Rheumatoid Arthritis

59
Q

Gum infection with Porphyromonas gingivalis associated with rheumatoid arthritis

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

A

P gingivalis

60
Q

idiopathic inflammatory myopathies

A

Anti- Mi2

Anti- SRP

61
Q

SLE

A

dsDNA, Ro, La and Sm

62
Q

Sjogren’s

A

Ro, La

63
Q

Systemic Sclerosis

A

Scl70

64
Q

Antiphospholipid syndrome

Lupus anticoagulant cannot be assessed i patient is on anticoagulants

A

Anti-cardiolipin antibody

Lupus anti-coagulant

65
Q

Systemic Sclerosis

A

Beaked nose
Telangictasia
Radial following Microsomia

66
Q

CREST features
More extensive gastrointestinal disease
Interstitial pulmonary disease
Scleroderma kidney / renal crisis

A

Diffuse Cutaneous Systemic Sclerosis

67
Q

Dermatomyositis

A

Infiltration around blood vessel

Perivascular infiltration of CD4 T cells and B cells

68
Q

Polymyositis

A

CD8+ T cells surround MHC I expressing myofibres

Get muscle cell necrosis due to release of perforin and granzyme

69
Q

=Anti-aminoacyl transfer RNA synthetase antibody

Dermatomyositis

A

Jo-1

70
Q

Polymyositis

A

Anti-signal recognition peptide antibody

71
Q

Cytoplasmic fluorescence
Associated with antibodies to enzyme proteinase 3
Occurs in > 90% of patients with granulomatous polyangiitis with renal involvement

A

cANCA

72
Q

Perinuclear staining pattern
Associated with antibodies to myeloperoxidase
Less sensitive and specific than cANCA
Associated with microscopic polyangiitis and eosinophilic granulomatous polyangiitis

A

pANCA

Matt's Path REVERSE (18 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions