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Year 5 > Autoimmune and auto-inflammatory disease > Flashcards

Autoimmune and auto-inflammatory disease Flashcards

1
Q

Familial Mediterranean Fever

A

Autoinflammatory monogenic disease

Loss-of-function mutation in MEFV1, which encodes pyrin-marenostrin

Inflammasome complex is not negatively regulated

There is intermittent fever lasting 2-3 days, with pleurisy, peritonitis, pericarditis, rash and arthritis

Risk of AA amyloidosis and kidney damage, as liver chucks out serum amyloid A

Tx with colchicine (2nd line is akinra or etanercept)

Akinra = IL-1R antagonist 
Etanercept= TNFa inhibitor
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2
Q

TRAPS

A

Autoinflammatory monogenic disease

TNFa Receptor Associated Periodic Syndrome

Mutations in TNFRSF1 which encodes TNFa receptor

Results in periodic fevers lasting > 1 week
Intense muscle pain, rash, peritonitis, pleurisy

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3
Q

Hyper IgD Periodic Syndrome

A

Autoinflammatory monogenic disease

Mutation in MK which encodes mevalonate kinase

Results in febrile attacks every 1-2 months

Intense inflammatory reaction - lymphadenopathy, hepatosplenomegaly, abdo signs, cutaenous signs

Raised IgD with low Mevalonate kinase

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4
Q

APECED

A

Autoimmune PolyEndocrine Candidiasis Ectodermal Dystrophy

Autoimmune monogenic disease

  • Failure of T-cell tolerance due to defective AIRE
  • Self-T-cells survive, and help B-cells so this is a MIXED autoimmune disease
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5
Q

IPEX

A

Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked

Autoimmune monogenic disease

  • Mutation in Foxp3
  • Don\t get negative regulation of T-cell response

DIARRHOEA, DIABETES AND DERMATITIS
(+ hypothyroidism!

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6
Q

ALPS

A

Autoimmune Lymphoproliferative Syndrome

Autoimmune monogenic disease

Mutation in Fas pathway, so lymphocytes cannot udnergo apoptosis

  • Failure of central tolerance
  • Splenomegaly
  • Lymphadenopathy
  • Lymphoma
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7
Q

Crohn’s Disease

A

Polygenic autoinflammatory disease

  • NOD2/CARD15
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8
Q

Ankylosing spondylitis

A

MIXED PATTERN DISEASE

  • HLA-B27
    = Tx with NSAIDs, anti-TNFa and anti-IL17
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9
Q

Associations with T1DM?

A

HLA-DR 3

HLA-DR 4

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10
Q

Associations with Rheumatoid arthritis?

A

HLA-DR4

HLA-DR1

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11
Q

Associations with Graves disease?

A

HLA-DR3

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12
Q

Associations with Goodpasture’s disease?

A

HLA-DR15

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13
Q

PTPN22 polymorphism

A

Seen in SLE, T1DM, Rheumatoid arthritis

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14
Q

CTLA4 polymorphism

A
  • Seen in SLE, T1DM and thyroid disease
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15
Q

Graves disease

A
  • Type 2 Hypersensitivity reaction
  • IgG binds to TSH receptors
  • DR3!
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16
Q

hashimoto’s Thyroiditis

A
  • Type 2 Hypersensitivity reaction
  • IgG binds to TPO

Also TYPE 4 Hypersensitivity
- T-cel and B-cell infiltration

17
Q

Myasthenia Gravis

A
  • Type 2 Hypersensitivity reaction

- Antibodies bind to AchR

18
Q

Goodpastures Disease

A

Type 2 HS

- antibodies bind to glomerular basement membrane

19
Q

Type 1 Hypersensitivity

A

Soluble antigen (IgE)

  • Immediate reaction
  • IgE binds to a soluble antigen and causes mast cell degranulation and histamine release
  • Vascular permeability, leukocyte chemotaxis and smooth muscle contraction

Examples

  • Infantile dermatitis
  • Food allergies
  • Oral allergy syndrome
  • Allergic rhinitis (blue mucosa)
20
Q

Type 2 Hypersensitivity

A

Response to cellular antigen
IgM/IgA

  • IgM or IgA binding to cellular antigen results in cytotoxicity or can sometimes just bind with no damage e.g. Graves disease

Examples

  • HDN
  • ITP
  • Goodpasture’s
  • Myasthenia Gravis
  • MPA, GPA and eGPA
21
Q

Type 3 hypersensitivity

A

Immune COMPLEX mediated damage

  • SLE
  • Polyarteritis nodosa
22
Q

Type 4 hypersensitivity reaction

A

T-cell mediated

  • T1DM
  • MS
  • Rheumatoid arthritis
  • Contact dermatitis
  • Crohn’s disease
23
Q

Sjrogen’s syndrome

A

sjROgen’s syndrome

  • anti-RO
  • anti-La
24
Q

Coeliac disease

A

DQ2

DQ8

Year 5 (22 decks)

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