Pz#
Age
Sex
IgE (kU/L) Eos (μl)
SPINK5 mutations (NM_006846.3)
Mutation consequences
LEKTI expression (IHC)
Refs
1
12
F
13,175
800
c.153delT / c.891C>T p.Gln52Lysfs*6 / Altered splicing
Highly reduced
(10,11)
2
3
M
16,300
670
c.1431-12G>A / c.1431-12G>A Altered splicing / Altered splicing
Absent
(12)
3
4
F
21
230
c.1129G>T / c.2667-2A>G p.Gly377* / Altered splicing
Absent
This study
4
43
M
1,711
750
c.238dupG / c.238dupG p.Ala80Glyfs*19 / p.Ala80Glyfs*19
Absent
(13)
5
4
M
2,145
850
c.316_317delGA / c.1302+4A>T
p.Asp106Trpfs*7 / Altered splicing
Highly reduced
(14,15)
6
19
F
1,718
450
c.1111C>T / c.2041_2042delAG p.Arg371* / p.Arg681Glufs*28
Absent
(16)
7
5
M
155
300
c.238dupG / c.891C>T p.Ala80Glyfs*19 / Altered splicing
Highly reduced
(11)
8
13
F
1,035
390
ND / ND
/
Absent
/
9
13
F
893
650
c.1302+4A>T / ° Altered splicing / °
Reduced
(14)
10
22
F
635
560
ND / ND
ND / ND
Absent
/