Clinical Features at Onset and Genetic Characterization of Pediatric and Adult Patients with TNF-α Receptor—Associated Periodic Syndrome (TRAPS): A Series of 80 Cases from the AIDA Network
Table 1
Demographic characteristics of TRAPS patients described in the whole cohort of the study, according to age at onset and according to the penetrance of TNFRSF1A mutations. List of abbreviations: IQR: interquartile range; N.: number of patients; n.s.: not significant; SD: standard deviation; TNFRSF1A: tumor necrosis factor receptor super family member 1 A; TRAPS: tumor necrosis factor receptor-associated periodic syndrome.
Whole TRAPS population
Pediatric onset group
Adult-onset group
High-penetrance TNFRSF1A mutations
Low-penetrance TNFRSF1A mutations
Numerosity N. (%)
80 (100%)
44 (55%)
36 (45%)
32 (40%)
44 (55%)
Male : female
42 : 38
26 : 18
16 : 20
n.s.
19 : 13
20 : 24
n.s.
Age at recruitment, years Median (IQR) or
44.0 (31.0)
n.s.
0.04
Age at onset, years Median (IQR) or
8.0 (16.2)
<0.001
5.0 (14.1)
16.0 (26.5)
0.01
Age at diagnosis, years
0.003
0.01
Diagnostic delay, years Median (IQR) or
18.0 (27.5)
<0.001
30.0 (26.0)
7.0 (15.0)
<0.001
Duration of disease at last visit, years Median (IQR) or
