Periodic Fever Flashcards
FMF mechanism of disease
Activation of pyrin inflammasome; IL-1beta up
TRAPS mechanism of disease
Misfolding of mutant protein; unfolded protein response
HIDS mechanism of disease
Defect in geranyl-geranylation of RhoA resulting in activation of pyrin inflammasome; IL-1beta up
FCAS/MWS/NOMID mechanism of disease
Constitutive activation of the NLRP3 inflammasome: IL-1beta up
PAPA mechanism of disease
Constitutive activation of the pyrin inflammasome; IL-1beta up
DADA2 mechanism of disease
Lack of antiinflammatory (M2) macrophages; TNF & IL-1 up
SCAN4 mechanism of disease
Activation of the NLRC4 inflammasome; IL-1beta & IL-18 up
Syndrome of enteroColitis and auto-inflammation NLRC 4
HA20 mechanism of disease
Defect in hydrolysis of Lys63-linked ubiquitin chains; NF-kappaB up, multiple cytokines
CANDLE mechanism of disease
Defects in proteasome assembly; type 1 interferon up
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevatedtemp
SAVI mechanism of disease
Constitutive activation of STING; type 1 IFN up
Monoarthritis, peritonitis, erysipelas-like rash
FMF
Gene/Protein
MEFV/pyrin
Migratory myalgia and erythema, periorbital edema
TRAPS
Gene/Protein
TNFRSF1A/“
Cervical adenopathy and aphthous ulcers
HIDS
Gene/Protein
MVK/“
Cold induced urticarial like rash
FCAS
NLRP3
Sensorineural hearing loss
MWS
NLRP3
Aseptic meningitis and arthropathy
NOMID
NLRP3
Scarring cystic acne, PG, and pyogenic sterile arhritis
PAPA
PSTPIP1
Ischemic lacunar strokes
DADA2
ADA2
Recurrent MAS, cold-induced fever
SCAN4
Enterocolitis and autoinflammation
NLRC4
Fluctuating presence of autoantibodies
HA20
TNFAIP3 (A20)
Myositis, lipodystrophy, lymphadenopathy
CANDLE
PSMB8
Interstitial lung disease
SAVI
Gene/Protein
TMEM173/STING
