From the Mediterranean to the Sea of Japan: The Transcontinental Odyssey of Autoinflammatory Diseases

Table 3

The clinical features of tumor necrosis factor receptor-associated periodic fever syndrome.

Gene	TNFRSF1A (12p13)
Inheritance	Autosomal dominant
Protein encoded	p55 receptor of tumor necrosis factor
OMIM	142680
Onset	Infancy or adolescence
Fever	Over 39°C; Recurring at least 2–6 times each year; Absent in a subset of patients
Duration of fever episodes	Prolonged (from 1 week to 4 weeks)
Gastrointestinal signs	Severe abdominal pain, vomiting, and constipation
Rash features	Erythematous and migratory (with centrifugal trend); Cellulitis-like plaques and serpiginous patches; Painful
Muscular signs	Focal myositis, monocytic fasciitis; Cramping muscular pain; Migratory (with centrifugal trend)
Joint involvement	Arthralgia, tenosynovitis
Ocular signs	Periorbital edema, aseptic painful conjunctivitis, and uveitis
Serosal signs	Pleuritis, pericarditis
Major complication	Amyloidosis of AA type
Serum marker in the interfebrile phase	Soluble TNF receptor (TNFRSF1A) lower than 1 ng/mL
Treatment	Interleukin-1 antagonists