Table 1.

Brief summary of the monogenic autoinflammatory disorders.

Disease		Gene  locus	Protein	Inheritance	Clinical features	Treatment
FMF [22, 23]		MEFV  16p13.3	Pyrin	AR	Fever, serositis, arthralgias or arthritides, erysipelas-like eruption on the legs, responsiveness to colchicine prophylaxis, amyloidosis in untreated or noncompliant patients	Colchicine, anakinra, canakinumab
TRAPS [24–30]		TNFRSF1A  12p13	p55 tumor necrosis factor receptor type 1	AD	Fever, severe migrating muscle and joint involvement, conjunctivitis, periorbital edema, arthralgias or arthritis, sacroiliitis, serosal involvement, steroid responsiveness of febrile attacks, risk of amyloidosis	Corticosteroids, etanercept, anakinra, canakinumab, tocilizumab
MKD [31, 32]		MVK  12q24	Mevalonate kinase	AR	Fever, widespread polymorphous rash, arthralgias, abdominal pain, diarrhea, lymph node enlargement, oral aphthosis	NSAIDs, anakinra, corticosteroids
CAPS [33, 34]	FCAS	NLRP3  1q44	Cryopyrin	AD	Fever, cold-induced urticaria-like rash, conjunctivitis, arthralgias, fatigue	Anakinra, canakinumab, rilonacept
	MWS				Fever, urticaria-like rash, conjunctivitis, arthralgias, neurosensorial deafness, risk of amyloidosis
	CINCAs				Fever, urticaria-like rash, uveitis, papilledema, deforming arthritis involving large joints, neurosensorial deafness, aseptic chronic meningopathy, risk of amyloidosis
PAPAs [35–37]		PSTPIP1  15q24-q25.1	CD2BP1	AD	Pauciarticular pyogenic arthritis, osteocartilaginous erosions of joints, cystic acne, pyogenic abscesses	Infliximab, anakinra
MAJEEDs [38–40]		LPIN2  18p11.31	Lipin 2	AR	Recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, chronic dermatosis resembling Sweet's syndrome	NSAIDs, corticosteroids, anakinra, canakinumab
BS [41–43]		NOD2  (CARD15)  16q12.1-13	Nod2 (Card15)	AD	Intermittent fevers, granulomatous dermatitis with ichthyosis-like changes, symmetrical granulomatous polyarthritis, recurrent severe granulomatous panuveitis	Corticosteroids, immunosuppressive agents, anti-TNF-α drugs, anakinra

AD: autosomal dominant; AR: autosomal recessive; BS: Blau syndrome; CAPS: cryopyrin-associated periodic syndromes; CINCAs: chronic inflammatory neurological cutaneous articular syndrome; FCAS: familial cold autoinflammatory syndrome; FMF: familial Mediterranean fever; MAJEEDs: Majeed syndrome; MKD: mevalonate kinase deficiency syndrome; MWS: Muckle-Wells syndrome; NSAIDs: nonsteroidal anti-inflammatory drugs; PAPAs: pyogenic arthritis-pyoderma gangrenosum-acne syndrome; TRAPS: tumor necrosis factor receptor-associated periodic syndrome.