Autoinflammatory diseases Flashcards
what is hereditary periodic fever (HPF)
genetically determined episodes of fever with intense inflammation of several tissues
is HPF autosomal recessive or dominant
either
is the TRAPs form of HPF recessive or dominant
dominant
what sort of mutation of the gene TNFRSF1A usually occurs to cause TRAPs and what is the result
missense
gain of function of TNF
what is the usual role of the cytokine TNFa
its proinflammatory, controlling cell proliferation, differentiation and apoptosis
how is TRAPs usually diagnosed
reduced soluble TNFR1 in serum, raised acute phase response and genetic screening
how is TRAPs treated
steroids
how is psoriasis treated
biologics
which diseases are associated with mutations in the NLRP3 inflamasome gene
psoriasis, muckle wells syndrome, familial cold-induced autoinflammatory syndrome and chronic infantile cutaneous articular syndrome
which IL is an agonist for psoriasis
IL-36
what is muckle wells syndrome
chronic recuring urticaria
what causes the symptoms of muckle wells
increased local inflamation due to high tunover of inflamasomes and subsequent release of IL-1
what is the treatment for muckle wells
IL-1 receptor antagonists
what is the treatment for gout
IL-1 blocker called Anakinra
what is DIRA
deficiency of the IL-1Ra
