what is HLA-A3 associated with?
Haemochromatosis
What is HLA-B51 associated with?
Behect’s disease
What is HLA-B27 associated with?
Ankylosing spondylitis
Reactive arthritis
Acute anterior uveitis
psoriatic arthritis
What is HLA-DQ2/DQ8 associated with?
Coeliac disease
What is HLA-DR2 associated with?
narcolepsy
goodpasture’s
What is HLA-DR3 associated with?
dermatitis herpetiformis. sjgoren’s syndrome, primary biliary cirrhosis
What is HLA-DR4 associated with?
T1DM, RA
what is DiGeorge syndrome?
primary immunodeficiency disorder caused by T-cell deficiency and dysfunction
what are the features of DiGeorge Syndrome?
CATCH-22
C - Cardiac abnormalities
A - Abnormal facies
T - Thymic aplasia
C - Cleft palate
H - Hypocalcaemia/ hypoparathyroidism
22 - Caused by chromosome 22 deletion
What is li-Fraumeni Syndrome?
rare autosomal dominant disorder characterised by early onset (age 17) of variety of cancers such as sarcoma, breast cancer and leukaemias. caused by a mutation in tumour p53 gene
what are X linked recessive disorders?
A - androgen insensitivity syndrome
B - Becker/Duchenne
C - colour blindness
D - Diabetes insipidus (nephrogenic)
E - eyes (retinitis pigmentosa)
F - Fabry
G - G6PD deficiency
H - haemophilia A/B, Hunter’
what is fabry disease?
X-linked recessive lysosomal storage disorder caused by deficiency of the enzyme alpha-galactoside
what are the features of fabry disease
burning pain/ parathesia in childhood
angiokeratomas
corneal verticillata
proteinuria
early cvd
