Immuno 5: Autoinflammatory And Autoimmune Diseases 1 Flashcards
What is the difference between auto-inflammatory and auto-immune disease ?
Auto-inflammatory: affects innate immune response
Auto-immune: affects adaptive immune response
Give 1 example of a monogenic auto-inflammatory disease ?
Familial Mediterranean fever
Which gene is mutated in Familial Mediterranean fever ?
How does this cause the disease ?
MEFV gene (autosomal recessive)
Causes defect in pyrin-marenostrin protein which causes activation of Neutrophils by cryopyrin to become deregulated.
How is Familial Mediterranean fever associated with amyloidosis and Nephrotic syndrome ?
The inflammation causes the liver to produce acute phase protein: Amyloid
AMyloid deposits in the kidneys causing proteinuria and hence nephrotic syndrome
Name 3 monogenic Auto-immune disease ?
APS1 (auto-immune polyendocrine syndrome type 1) (APECED) IPEX ALPS (auto-immune lymphoproliferative syndrome)
What is the main treatment for Familial Mediterranean Fever ?
Colchicine
What causes APACED ?
Defect in AIRE transcription factor
(Promotes the apoptosis of auto-reactive T cells in the thymus)
Leads to a loss in central tolerance
Name the 2 most common auto-immune conditions seen in APS1 (APECED)?
Hypoparathyroidism
Addison’s disease
What causes IPEX ?
Mutation in Foxp3 gene
Foxp3 is required for development of Treg cells
What are the 3 Ds of conditions seen in IPEX ?
Diarrhoea
Dermatitis
Diabetes
What causes ALPS ?
Mutation in Fas pathway
causes defect in apoptosis of Lymphocytes
A child is examined and found to have splenomegaly, lymphadenopathy. Her blood tests show a high Lymphocyte count . The professor tells you that this is a monogenic Auto-immune disease and children have an increased risk of Lymphoma. What is the likely diagnosis ?
ALPS
Which genetic mutation has been found to be associated with Crohn’s disease ?
NOD2
Give 5 examples of polygenic auto-inflammatory diseases ?
Crohn’s disease Ulcerative colitis Osteoarthritis Giant cell arteritis Takayasu’s arteritis
List 4 drugs used to treat Crohn’s disease ?
Corticosteroids
Azathioprine (steroid sparing)
Anti-TNF alpha antibody
Anti- IL12/23 antibody