Table 1.

Clinical features and pathophysiology of monogenic autoinflammatory diseases.

Disease	Responsible gene, protein	Inheritance pattern	Clinical features	Treatment
CAPS[38, 53]	NLRP3, NLRP3 (cryopyrin)	Autosomal dominant	Fever, rigors, urticaria-like rash, arthralgia/arthritis, headache, conjunctivitis FCAS: episodes lasting < 24 h; cold-induced Muckle-Wells syndrome: episodes lasting 1–2 d; progressive neurosensory hearing loss NOMID: chronic daily symptoms; bony overgrowth of knees, chronic aseptic meningitis, papilledema, uveitis, developmental delay, seizures	IL-1 blockade FCAS: anakinra, canakinumab, rilonacept Muckle-Wells syndrome: anakinra, canakinumab, rilonacept NOMID: anakinra, canakinumab
FMF[64, 72]	MEFV, PYRIN	Autosomal recessive	Episodes lasting 1–3 d, abdominal pain, chest pain, arthralgia/arthritis, myalgia	Colchicine, anakinra, canakinumab
NLRC4-associated disorders[66, 109]	NLRC4, NLRC4	Autosomal dominant	Variable; recurrent fever, diarrhea, vomiting, urticaria-like rash, arthritis; might have MAS-like symptoms	Anakinra, anti–IFN-γ mAb
PAPA[154, 155]	PSTPIP1, PSTPIP1	Autosomal dominant	Episodes induced by mild trauma or infection; fever, arthralgia/arthritis, severe cystic acne, recurrent ulcers, sterile skin abscesses	Corticosteroids, etanercept, anakinra; acne might require oral tetracycline or isotretinoin
HIDS or MKD[156]	MVK, mevalonate kinase	Autosomal recessive	Episodes lasting 7–10 d; fever, arthralgia, cervical lymphadenopathy, abdominal pain, maculopapular rash	NSAIDs, etanercept, anakinra
TRAPS[157]	TNFSFR1A, TNFSFR1A	Autosomal dominant	Episodes lasting days to weeks; fever, periorbital edema, arthritis/myalgia, abdominal pain, centrifugal rash	Corticosteroids, anakinra, canakinumab, etanercept, NSAIDs
DIRA[158, 159]	IL1RN, IL-1RA	Autosomal recessive	Chronic symptoms noted in neonatal period; failure to thrive, irritability, pustular rash, hepatosplenomegaly, oral ulcers, joint swelling, arthritis	Anakinra