Basic Characteristics of Adults with Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenopathy Syndrome in Comparison with the Typical Pediatric Expression of Disease

Table 2

List of the genetic and clinical features of the main hereditary autoinflammatory disorders.

Disease	Gene; locus	Protein	Inheritance	Clinical features
FMF	MEFV; 16p13.3	Pyrin	AR	Fever, serositis, arthralgias or arthritides, erysipelas-like eruption on the legs, responsiveness to colchicine prophylaxis, and amyloidosis in untreated or noncompliant patients
TRAPS	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, and risk of amyloidosis
MKD	MVK; 12q24	Mevalonate kinase	AR	Fever, widespread polymorphous rash, arthralgias, abdominal pain, diarrhea, lymph node enlargement, and oral aphthosis
CAPS
FCAS	NLRP3; 1q44	Cryopyrin	AD	Fever, cold-induced urticaria-like rash, conjunctivitis, arthralgias, and fatigue
MWS				Fever, urticaria-like rash, conjunctivitis, arthralgias, neurosensory deafness, and risk of amyloidosis
CINCAs				Fever, urticaria-like rash, uveitis, papilledema, deforming arthritis involving large joints, neurosensory deafness, aseptic chronic meningopathy and hydrocephalus, and risk of amyloidosis

AD: autosomal dominant, AR: autosomal recessive, CAPS: cryopyrin-associated periodic syndromes, CINCAs: chronic inflammatory neurological cutaneous articular syndrome, FCAS: familial cold autoinflammatory syndrome, FMF: familial Mediterranean fever, MKD: mevalonate kinase deficiency syndrome, MWS: Muckle-Wells syndrome, and TRAPS: tumor necrosis factor receptor-associated periodic syndrome.