AIAI disease 2

Question 1

Explain aetiology of Graves

Answer 1

Production of IgG antibodies
Antibodies bind to TSH receptor
This stimulates production of thyroid hormones> excess thyroid hormone production

Question 2

What is the evidence for Graves?

Answer 2

Antibodies stimulate thymocytes in vitro
Passive transfer of IgG from patients to rats produces the same symptoms
Babies born to mothers with Graves show transient hyperthyroidism

Question 3

What type of hypersensitivity reaction is Graves?

Answer 3

Type II

Question 4

What happens in the thyroid in Hashimoto’s ?

Answer 4

It becomes infiltrated with B and T cells > enlarged > goitre

Question 5

What antibodies act in Hashimoto’s?

Answer 5

Anti-TPO antibodies

Anti-thyroglobulin antibodies

Question 6

What time of hypersensitivity reaction is Hashimoto’s?

Answer 6

Type II, IV

Question 7

What antibodies predate T1DM?

Answer 7

Anti-islet cell
anti-insulin
Anti-GAD
Anti-IA2

Question 8

What did experiments show in mice for T1DM?

Answer 8

The non-obese diabetes mouse model showed CD( T cell infiltration of pancreas
CDH T cells bind to peptides presented by MHC Class I on beta cells of pancreas

Question 9

Does detection of antibodies play a role in diagnosis of T1DM?

Answer 9

NO

Question 10

What occurs in pernicious anaemia?

Answer 10

Antibodies are made against intrinsic factor

This leads to failure of absorption of vitamin B12

Question 11

What clinical conditions does B12 deficiency lead to?

Answer 11

Subacute degeneration of spinal cord
Peripheral neuropathy
Optic neuropathy

Question 12

What antibodies are used in diagnosis of pernicious anaemia?

Answer 12

gastric parietal cell antibodies

intrinsic factor antibodies

Question 13

What antibodies to patients display in myasthenia gravis?

Answer 13

Anti-acetylcholine receptor antibodies

Antibodies against nicotinic acetylcholine receptor > leads to failure in depolarisation

Question 14

What test confirms dx of myasthenia gravis?

Answer 14

TENSILON test

Question 15

What does the tensilon test involve?

Answer 15

Administer short acting anti cholinesterase e.g. edrophonium bromide
This will cause rapid improvement in symptoms

Question 16

What type of hypersensitivity is MG?

Answer 16

Type II

Question 17

What antibodies are present in good pastures?

Answer 17

Anti-glomerular basement membrane antibodies

Question 18

What is the genetic predisposition of RA?

Answer 18

HLA DR1, HLA DR4

PTPN22

Question 19

What antibodies are present in RA?

Answer 19

Anti-cyclic citrullinated peptide antibodies 
Rheumatoid factors (low sensitivity)

Question 20

What are environmental factors associated with RA?

Answer 20

Smoking > erosive disease, due to increased citrullination

Gum infection with porphyromonas gingivitis

Question 21

What occurs in the joint in RA?

Answer 21

Inflamed synovial tissue forms a PANNUS that overlays and invades articular cartilage

Question 22

What are the genetic predispositions in lupus?

Answer 22

Abnormalities in clearing apoptotic cells
Abnormalities in cell activation
B cell hyperactivity, loss of tolerance
Antibodies directed at IC proteins

Question 23

What is the triad in antiphospholipid syndrome?

Answer 23

recurrent thrombosis (arterial/venous)
recurrent miscarriage
thrombocytopenia

Question 24

What are the three major antibody tests in antiphospholipid syndrome?

Answer 24

Anti-cardiolipin
Lupus anticoagulant
AntiB2 glycoprotein 1 antibody

Question 25

What immune cells predominate in inflammation in systemic sclerosis ?

Answer 25

Th2, Th17

Question 26

What polymorphisms are responsible for activation of fibroblasts > fibrosis in systemic sclerosis'

Answer 26

- T1 collagen alpha 2 chains AND Fibrillin 1 | - TGF beta

Question 27

What are symptoms of limited cutaneous systemic sclerosis?

Answer 27

CREST ``` Calcinosis Raynaud's phenomenon Esophageal dysmotility Sclerodactyly Telangiectasia ```

Question 28

What are symptoms of Diffuse Cutaneous Systemic Sclerosis?

Answer 28

``` Symptoms extend beyond forearms CREST + GI disease Interstitial pulmonary disease Kidney scleroderma, renal cyst ```

Question 29

What antibody is responsible for diagnosis of limited cutaneous scleroderma

Answer 29

anti-centromere antibody

Question 30

what antibodies aree responsible for diagnosis of diffuse cutaneous scleroderma

Answer 30

anti-topoisomerase, Scl70, RNA Pol I,II,III, Fibrillarin autoantiboidies

Question 31

what antibodies are responsible for Sjogrens

Answer 31

Anti-Ro, anti-La

Question 32

what are symptoms of Sjogrens

Answer 32

``` dry mouth (xerostermia) dry eyes (keratoconjunctivitis siccA) dry nose and skin ```

Question 33

what test can you use to measure production of tears in Sjogreens

Answer 33

Schirmers

Question 34

what does IPEX stand for

Answer 34

Immune dysregulation Polyendocrinopatyhy Enterpathjy X linkd

Question 35

what are clinical features in IPEX

Answer 35

eczema /dermatitis naail dystrophy AI skin condition (alopecia universalis, bullous pemphigoing

Question 36

What are antibodies for coeliaca

Answer 36

``` IgA EMA (anti endomysial antibodies) IgA TGT (anti transglutaminase antibodies) IgG anti gliadin aantibodies ```

Question 37

what is the skin condition with coeliacs

Answer 37

Dermatitis herpetiformis

Question 38

what antibody disappears with exclusion diet in coeliacs

Answer 38

anti endomysial antibodie

Question 39

WHat HLA mutations are associated with coeliac

Answer 39

HLA DQ2, DQ8 DQ2.5 most common Two Eight or not to eat?

Question 40

what kind of staining measures anti dsDNA in SLE

Answer 40

Homogeneous stain

Question 41

How good is anti-dsDNA in SLE

Answer 41

VERY GOOD - HIGHLY SPECIFIC present in 70% of SLE patients

Question 42

what are high titres of anti-dsDNA associated with

Answer 42

SEVERE SLE | incl renal / CNS involvement

Question 43

How do you confirm anti dsDNA

Answer 43

ELISA

Question 44

What is the complement profile for inactive SLE

Answer 44

Normal C3, Normal C4

Question 45

what is the complement profile for active SLE

Answer 45

Normal C3, LOW C4

Question 46

What is the complement profile for severe active SLE

Answer 46

LOW C3 and LOW C4

Question 47

what is a speckled pattern on homegeneous staining inficative of

Answer 47

antivbodies to EXTRACTABLE NUCLEAR ANTIGENS ENA 4 (so ribonucleoproteins, eg, Ro, La, Dm, U1RNP)