Flashcards in Immunology 5 - Autoinflammatory and autoimmune disorders Deck (58)
What is the difference between auto-immune and auto-inflammatory diseases?
Auto-inflammatory involves innate immune system
Auto-immune involves adaptive immune system
Which type of cell can produce IL1 and NFkappaB?
What is the role of cryopyrin in inflammation?
Induces IL1/NFkB secretion by neutrophils
What is the role of pyrin-marenostin in inflammation?
Inhibits IL1/NFkB secretion by neutrophils
What is the inheritance pattern of Familial Mediterannean Fever?
What is the mutation that causes Familial Mediterannean Fever?
MEFV mutation - this is the gene that codes Pyrin-marenostrin (inhibitory of inflammation)
Cryopyrin therefore not opposed
What are the symptoms of Familial Mediterannean Fever?
Periodic fevers of about 2-3 days duration
What is the long-term risk of Familial Mediterannean Fever?
What is the treatment for Familial Mediterannean Fever?
This binds tubulin on neutrophils
What is TRAPS?
TNF-Receptor Associated Periodic Syndrome
What is the defect that causes APECED?
--> Defect in T cell tolerance
--> autoreactive T cells
What does APECED stand for?
Autoimmune PolyEndocrinopathy Cabndidiasis Ectodermal Dystrophy
What is the role of AIRE?
Upregulates expression of self antigen by the thymus to promote T cell apoptosis
What are the symptoms of APECED?
Auto-immune diseases - mostly hypoparathyroidism and Addisson's
What is the pathophysiology of candida susceptibility in APECED?
Auto-antibodies vs IL17 and IL22 are produced, which are interleukins that are important in candida immunity
What does IPEX stand for?
Immune polyendocrinopathy enteropathy X-linked syndrome
What is the mutation that causes IPEX?
What is the usual role of FOXP3?
Required for T reg cell development and function
What is the pathophysiology of IPEX?
FOXP3 mutation --> failure to negatively regulate T cell responses --> lots of autoreactive *B* cells
What are the symptoms of IPEX?
Diarrhoea, Diabetes, Dermatitis
What does ALPS stand for?
Autoimmune Lympho Proliferative Syndrome
What mutation causes ALPS?
Fas pathway mutation
What are the symptoms of ALPS?
Defect in lymphocyte apoptosis --> splenomegaly and lymphadenopathy
Recall 2 mutations associated with Crohn's disease
What is the HLA association of ankylosing spondylitis?
Where in the body is most affected by ankylosing spondylitis?
Areas where there are high tensile forces
Recall 2 genetic associations of Grave's disease
Recall 3 genetic associations of SLE
What is the HLA association of Rheumatoid Arthritis?