Table 2. Genetic findings after routine diagnostic panel analysis.

Genetic variants reported after routine diagnostic whole exome sequencing analysis of the 123 patients included in this cohort of inborn errors of immunity.

Total cases in which a genetic variant was reported, n (%)	36 (29.3)	Patient nr.
(Likely) pathogenic mutation, n (%)	18 (14.6)
Within IEI gene panel, n (%)	12 (9.8)	All patients listed in Table 3
Beyond IEI gene panel, n (%)	6 (4.9)	1, 3, 40, 69, 85, 103 (Table 1—source data 1)
Other variants, n (%)	19 (15.4)	Table 1—source data 1
Risk factor, n (%)	6 (4.9)	21, 44, 55, 56, 68, 112
Carriership recessive allele, n (%)	7 (5.7)	3, 7, 16, 23, 32, 44, 76
Variant of unknown significance, n (%)	9 (7.3)	6, 21, 23, 45, 54, 80, 100, 101, 115