HLA Associations - Ankylosing spondylitis -Susceptibility Alelle -Relative Risk (fold)
-Susceptibility Alelle - HLA B27 -Relative Risk (fold) - 87
HLA Associations - Goodpasture's Syndrome -Susceptibility Alelle -Relative Risk (fold)
-Susceptibility Alelle - HLA DR15/DR2 -Relative Risk (fold) - 10
HLA Associations - Graves Disease -Susceptibility Alelle -Relative Risk (fold)
-Susceptibility Alelle - HLA - DR3 -Relative Risk (fold) - 4
HLA Associations - SLE -Susceptibility Alelle -Relative Risk (fold)
-Susceptibility Alelle - HLA - DR3 -Relative Risk (fold) - 6
HLA Associations - T1DM -Susceptibility Alelle -Relative Risk (fold)
-Susceptibility Alelle - HLA DR3/DR4 -Relative Risk (fold) - 25
HLA Associations - Rheumatoid Arthritis -Susceptibility Alelle -Relative Risk (fold)
-Susceptibility Alelle - HLA-DR4 -Relative Risk (fold) - 4
Tyrosine phosphatase expressed in lymphocytes, associated development of RA, SLE, and T1DM
receptor for CD80/CD86 expressed by T cells, transmits inhibitory signal to control T cell activation, Associated with SLE, T1DM, Autoimmune thyroid disease
CREST syndrome - Limited Cutaneous Scleroderma - what does CREST stand for
Calcinosis Raynaud's (O)Esophageal dysmotility Sclerodactyly Telangiectasia (+ primary pulmonary hypertension)
CREST syndrome - Limited Cutaneous Scleroderma - Antibodies for diagnosis
Anti-centromere Antibodies for diagnosis
CREST syndrome - Limited Cutaneous Scleroderma -increases risk for what?
High risk of Lung Fibrosis and Renal Crisis
Diffuse Cutaneous Scleroderma - what does it involve?
CREST + GIT+ interstitial pulmonary disease + renal problems
Diffuse Cutaneous Scleroderma - Antibodies?
Anti- Topoisomerase/ Scl70, RNA Pol 1,2 and 3, Fibrillarin Antibodies
Diffuse Cutaneous Scleroderma - who is affected?
Females: males 4:1
Sjogren's Syndrome - who is affected?
M:F 1:9, onset in late 40s
Sjogren's Syndrome - symptoms?
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
Sjogren's Syndrome - Ab present?
Anti-Ro and anti-La antibodies present
Sjogren's Syndrome - what test is used?
Use Schirmer test to measure production of tears- assessing for dry eyes
IPEX syndrome - what does it stand for?
Immune dysregulation, Polyendocrinopathy, Enteropathy and X-linked inheritance syndrome + autoimmune diseases
IPEX syndrome -Symptoms?
Eczematous dermatitis, nail dystrophy and autoimmune skin conditions such as alopecia universals and bullous pemphigoid
IPEX syndrome -age of death?
Most affected children die within the first 2 years of life
IPEX syndrome -inheritance?
X-linked recessive disorder with exclusive expression in males
IPEX syndrome -treatment?
Bone marrow transplant is the only cure. can use immunomodulators to help
Coeliac Disease -what is it?
Failure of tolerance to gluten. Villous atrophy and enteropathy
Coeliac Disease -Symptoms?
GIT discomfort, constipation, diarrhoea, bloating, fatigue
Coeliac Disease -what does it go on to cause deficiencies in?
Iron, B12, Folate, Fat, Vitamins A, D, E & K and calcium deficiencies
Coeliac Disease -Immunogloblins involved?
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)
Coeliac Disease -Test
Gold Standard test is to do a duodenal biopsy but it is not first line