Hypersensitivity Disorders - HLA Associations and Other Diseases

Question 1

HLA Associations - Ankylosing spondylitis -Susceptibility Alelle -Relative Risk (fold)

Answer 1

-Susceptibility Alelle - HLA B27 -Relative Risk (fold) - 87

Question 2

HLA Associations - Goodpasture’s Syndrome -Susceptibility Alelle -Relative Risk (fold)

Answer 2

-Susceptibility Alelle - HLA DR15/DR2 -Relative Risk (fold) - 10

Question 3

HLA Associations - Graves Disease -Susceptibility Alelle -Relative Risk (fold)

Answer 3

-Susceptibility Alelle - HLA - DR3 -Relative Risk (fold) - 4

Question 4

HLA Associations - SLE -Susceptibility Alelle -Relative Risk (fold)

Answer 4

-Susceptibility Alelle - HLA - DR3 -Relative Risk (fold) - 6

Question 5

HLA Associations - T1DM -Susceptibility Alelle -Relative Risk (fold)

Answer 5

-Susceptibility Alelle - HLA DR3/DR4 -Relative Risk (fold) - 25

Question 6

HLA Associations - Rheumatoid Arthritis -Susceptibility Alelle -Relative Risk (fold)

Answer 6

-Susceptibility Alelle - HLA-DR4 -Relative Risk (fold) - 4

Question 7

PTPN22

Answer 7

Tyrosine phosphatase expressed in lymphocytes, associated development of RA, SLE, and T1DM

Question 8

CTLA4

Answer 8

receptor for CD80/CD86 expressed by T cells, transmits inhibitory signal to control T cell activation, Associated with SLE, T1DM, Autoimmune thyroid disease

Question 9

CREST syndrome - Limited Cutaneous Scleroderma - what does CREST stand for

Answer 9

Calcinosis Raynaud’s (O)Esophageal dysmotility Sclerodactyly Telangiectasia (+ primary pulmonary hypertension)

Question 10

CREST syndrome - Limited Cutaneous Scleroderma - Antibodies for diagnosis

Answer 10

Anti-centromere Antibodies for diagnosis

Question 11

CREST syndrome - Limited Cutaneous Scleroderma -increases risk for what?

Answer 11

High risk of Lung Fibrosis and Renal Crisis

Question 12

Diffuse Cutaneous Scleroderma - what does it involve?

Answer 12

CREST + GIT+ interstitial pulmonary disease + renal problems

Question 13

Diffuse Cutaneous Scleroderma - Antibodies?

Answer 13

Anti- Topoisomerase/ Scl70, RNA Pol 1,2 and 3, Fibrillarin Antibodies

Question 14

Diffuse Cutaneous Scleroderma - who is affected?

Answer 14

Females: males 4:1

Question 15

Sjogren’s Syndrome - who is affected?

Answer 15

M:F 1:9, onset in late 40s

Question 16

Sjogren’s Syndrome - symptoms?

Answer 16

Dry mouth (xerostomia), eyes (keratoconjunctivitis sicca), nose and skin May affect kidneys, blood vessels, lungs, liver, pancreas and PNS, may get parotid or salivary gland enlargement

Question 17

Sjogren’s Syndrome - Ab present?

Answer 17

Anti-Ro and anti-La antibodies present

Question 18

Sjogren’s Syndrome - what test is used?

Answer 18

Use Schirmer test to measure production of tears- assessing for dry eyes

Question 19

IPEX syndrome - what does it stand for?

Answer 19

Immune dysregulation, Polyendocrinopathy, Enteropathy and X-linked inheritance syndrome + autoimmune diseases

Question 20

IPEX syndrome -Symptoms?

Answer 20

Eczematous dermatitis, nail dystrophy and autoimmune skin conditions such as alopecia universals and bullous pemphigoid

Question 21

IPEX syndrome -age of death?

Answer 21

Most affected children die within the first 2 years of life

Question 22

IPEX syndrome -inheritance?

Answer 22

X-linked recessive disorder with exclusive expression in males

Question 23

IPEX syndrome -treatment?

Answer 23

Bone marrow transplant is the only cure. can use immunomodulators to help

Question 24

Coeliac Disease -what is it?

Answer 24

Failure of tolerance to gluten. Villous atrophy and enteropathy

Question 25

Coeliac Disease -Symptoms?

Answer 25

GIT discomfort, constipation, diarrhoea, bloating, fatigue

Question 26

Coeliac Disease -what does it go on to cause deficiencies in?

Answer 26

Iron, B12, Folate, Fat, Vitamins A, D, E & K and calcium deficiencies

Question 27

Coeliac Disease -Immunogloblins involved?

Answer 27

IgA EMA (anti- endomysial antibody) disappears with exclusion diet (95% specific, 85% sensitive) IgA TGT (anti- transglutaminase antibody) - 95% specific, 90-94% sensitive IgG anti-gliadin antibody - most persistent (30-50% specific, 57-80% sensitive)

Question 28

Coeliac Disease -Test

Answer 28

Gold Standard test is to do a duodenal biopsy but it is not first line