Compound heterozygosity for two mutations in the TNFRSF1A gene in a severely affected patient with clinical features of the TNF receptor-associated periodic syndrome (TRAPS)

Aims: The tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is typically characterized by periodic fever, myalgia, skin rash, conjunctivitis and abdominal cramps. Recently, mutations in the TNFRSF1A gene on chromosome 12p13 encoding the TNF receptor type 1 (TNFR1) have been linked to this autoinflammatory syndrome. In most cases, the resulting amino acid substitutions lead to a reduced shedding of the soluble 55-kDa TNF receptor and thereby to decreased TNF inactivation. AIM: To sequence the TNFRSF1A gene in a 29-year-old Caucasian female, who suffered since her childhood from periodic in…