Combined immunodeficiencies

D3_COMBIMMUDEF

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

None

520210

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 D81
  • Cause of death: ICD-10 D81

2 out of 7 registries used, show all original rules.

-

4. Check minimum number of events

None

-

5. Include endpoints

397

6. Filter based on genotype QC (FinnGen only)

397

Control definitions (FinnGen only)

Control exclude
D3_IMMUNEMECHANISM

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
D80-D89
Name in latin
Deficientiae immunales mixtae

Similar endpoints

List of similar endpoints to Combined immunodeficiencies based on the number of shared cases.

Venn diagram with an highlighted set fully inside another set Similar with more cases:

Venn diagram with a set fully inside an highlighted set Similar with less cases:

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 3113 1722 1368
Only index persons 2640 1511 1129
Unadjusted period prevalence (%)
Whole population 0.04 0.05 0.04
Only index persons 0.05 0.06 0.04
Median age at first event (years)
Whole population 56.62 54.81 58.78
Only index persons 54.63 53.01 56.80

-FinnGen-

Key figures

All Female Male
Number of individuals 397 242 155
Unadjusted period prevalence (%) 0.08 0.08 0.07
Median age at first event (years) 54.01 49.17 61.56

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

No data

CodeWAS (R11)

CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.

This is a new tool, please reach out using the contact form for feedback and improvement ideas.

First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log10(p-value) ≥ 6.

Matched cohort

Matched cases
365
Matched controls
3650
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
D81.4
ICD-10 Finland
Nezelof syndrome
+∞
161.8
143
*
D81.0
ICD-10 Finland
Severe combined immunodeficiency [SCID] with reticular dysgenesis
+∞
107.8
98
*
T81.4
ICD-10 Finland
Infection following a procedure, not elsewhere classified
11.8
69.0
141
184
Y83
ICD-10 Finland
Surgical operation and other surgical procedures as the cause of abnormal reaction of the patient, or of later complication, without mention of misadventure at the time of the procedure
10.9
53.6
111
140
D81.8
ICD-10 Finland
Other combined immunodeficiencies
+∞
49.1
46
*
D81.9
ICD-10 Finland
Combined immunodeficiency, unspecified
+∞
32.8
31
*
T81.0
ICD-10 Finland
Haemorrhage and haematoma complicating a procedure, not elsewhere classified
6.6
24.3
66
118
D80.1
ICD-10 Finland
Nonfamilial hypogammaglobulinaemia
+∞
20.0
19
*
D81.2
ICD-10 Finland
Severe combined immunodeficiency [SCID] with low or normal B-cell numbers
+∞
20.0
19
*
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
3.9
19.5
89
277
D81.1
ICD-10 Finland
Severe combined immunodeficiency [SCID] with low T- and B-cell numbers
+∞
18.9
18
*
N02AX02
ATC
tramadol; systemic, rectal
2.7
18.7
195
1077
WX408
NOMESCO Finland
General anesthesy, balanced
2.9
17.9
137
619
GD1AA
NOMESCO Finland
Thorax X-ray examination
2.6
17.4
192
1080
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
2.8
17.2
145
694
120
Kela drug reimbursment
Hypogammaglobulinaemia
+∞
16.8
16
*
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
3.6
15.7
79
263
J01MA12
ATC
levofloxacin; systemic
3.2
15.5
96
371
C03CA01
ATC
furosemide; systemic
2.6
15.2
144
725
TPH15
NOMESCO Finland
Insertion of central venous catheter through external or internal jugular vein
5.2
15.1
48
103
J01FF01
ATC
clindamycin; systemic
2.7
14.9
127
601
P01AB01
ATC
metronidazole; oral, rectal
2.4
13.9
173
998
J01DA01
ATC
[U] cefalexin; systemic
2.4
13.4
250
1746
WX404
NOMESCO Finland
Intravenous generell anesthesy
2.7
13.3
103
457
T81.8
ICD-10 Finland
Other complications of procedures, not elsewhere classified
10.6
13.2
25
25
QDB10
NOMESCO Finland
Major dressing of wound of skin of lower limb
5.8
13.0
37
70
WX700
NOMESCO Finland
Respiratory and circulatory monitoring
3.0
12.9
84
333
J06BA01
ATC
immunoglobulins, normal human, for extravascular adm.; systemic
+∞
12.6
12
*
JN3BD
NOMESCO Finland
Extensive abdominal CT
3.5
12.2
61
200
Z01.8
ICD-10 Finland
Other specified special examinations
2.6
12.2
101
462
D81.3
ICD-10 Finland
Adenosine deaminase [ADA] deficiency
+∞
11.5
11
*
D80.3
ICD-10 Finland
Selective deficiency of immunoglobulin G [IgG] subclasses
+∞
11.5
11
*
D80.9
ICD-10 Finland
Immunodeficiency with predominantly antibody defects, unspecified
+∞
11.5
11
*
R50.9
ICD-10 Finland
Fever, unspecified
3.0
11.2
70
267
NA3AA
NOMESCO Finland
Lumbar spine X-ray examination without contrast
3.4
11.1
55
179
J01MA02
ATC
ciprofloxacin; systemic
2.2
11.1
161
969
TPH04
NOMESCO Finland
Cathetrisation of vein
2.5
11.0
96
448
R4110
NOMESCO Finland
Physiotherapy
2.3
10.5
118
627
JA3AT
NOMESCO Finland
Cathetrisation of abdominal cavity with ultrasound guidance
12.5
10.5
18
15
LWE00
NOMESCO Finland
Reoperation for deep haemorrhage in gynaecological surgery
33.6
10.4
13
*
A41.0
ICD-10 Finland
Sepsis due to Staphylococcus aureus
10.5
10.1
19
19
JN3AA
NOMESCO Finland
Abdominal X-ray examination without contrast
4.6
10.1
35
83
WX002
NOMESCO Finland
Sedation and analgesia
2.5
9.8
86
402
NK6QA
NOMESCO Finland
Measurement of bone density from tow or more locations with X-ray
3.9
9.8
40
111
T81.3
ICD-10 Finland
Disruption of operation wound, not elsewhere classified
6.7
9.7
24
38
R10.4
ICD-10 Finland
Other and unspecified abdominal pain
2.1
9.6
141
837
N02AA59
ATC
codeine, combinations excl. psycholeptics; systemic
2.0
9.5
186
1240
X59
ICD-10 Finland
Exposure to unspecified factor
2.4
9.4
85
404
A49.9
ICD-10 Finland
Bacterial infection, unspecified
3.0
9.3
56
207
GD1PA
NOMESCO Finland
X-ray examination of the lungs in one projection
3.3
9.2
46
151
H02AB06
ATC
prednisolone; systemic
2.0
9.2
180
1198
A09
ICD-10 Finland
Other gastroenteritis and colitis of infectious and unspecified origin
2.5
9.1
76
344
JN3AD
NOMESCO Finland
Abdominal CT examination
3.5
9.1
42
130
ZXA00
NOMESCO Finland
Right side
2.1
9.0
120
679
UJF32
NOMESCO Finland
Coloscopy
2.2
8.8
109
599
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
2.1
8.8
133
795
TPH20
NOMESCO Finland
Insertion of central venous catheter through subclavian or brachiocephalic vein
6.3
8.6
22
37
J18.9
ICD-10 Finland
Pneumonia, unspecified
2.2
8.5
100
535
L04AX01
ATC
azathioprine; systemic
4.5
8.4
29
69
J01DB01
ATC
cefalexin; oral
2.1
8.0
299
2475
ZXA05
NOMESCO Finland
Left side
2.1
8.0
108
610
A46
ICD-10 Finland
Erysipelas
2.6
7.9
59
250
J10.1
ICD-10 Finland
Influenza with other respiratory manifestations, seasonal influenza virus identified
13.4
7.9
13
10
WZC00
NOMESCO Finland
Planning of intervention or health care consultation
2.0
7.9
131
803
SPAT1255
SPAT
Intravenous administration of medicine
3.9
7.9
31
84
Y83.9
ICD-10 Finland
Surgical procedure, unspecified as the cause of abnormal reaction of the patient, or of later complication, without mention of misadventure at the time of the procedure
5.8
7.8
21
38
A02BA02
ATC
ranitidine; systemic
2.2
7.8
86
447
JN1AE
NOMESCO Finland
Ultrasound examination of upper part of abdomen
3.1
7.8
43
150
DM1QA
NOMESCO Finland
Paranasal sinuses X-ray examination in one projection
4.5
7.7
26
61
UGC12
NOMESCO Finland
Flexible bronchoscopy
3.3
7.7
37
119
JAH00
NOMESCO Finland
Laparotomy
5.6
7.6
21
39
Y84
ICD-10 Finland
Other medical procedures as the cause of abnormal reaction of the patient, or of later complication, without mention of misadventure at the time of the procedure
10.3
7.6
14
14
GD1QA
NOMESCO Finland
Supine thorax X-ray examination
2.4
7.6
65
298
QX2XE
NOMESCO Finland
Ultrsound examination of soft tissue not elsewhere classified
4.7
7.4
24
54
I70.2
ICD-10 Finland
Atherosclerosis of arteries of extremities
2.9
7.4
46
175
JN4BD
NOMESCO Finland
Extensive body CT
2.7
7.3
50
202
UJF45
NOMESCO Finland
Flexible sigmoidoscopy with biopsy
3.1
7.3
41
145
Y88.3
ICD-10 Finland
Sequelae of surgical and medical procedures as the cause of abnormal reaction of the patient, or of later complication, without mention of misadventure at the time of the procedure
6.0
7.3
19
33
B01AA03
ATC
warfarin; systemic
2.2
7.3
84
443
UJF30
NOMESCO Finland
Ileoscopy through colon
2.8
7.2
45
172
FB1BD
NOMESCO Finland
Extensive CT examination of arteria pulmonalis
3.1
7.1
38
132
N03AX16
ATC
pregabalin; oral
2.1
7.1
97
547
PH2AE
NOMESCO Finland
Ultrasound examination of lower leg veins
2.7
7.1
49
200
NA2AA
NOMESCO Finland
Thoracal spine X-ray examination without contrast
6.5
7.0
17
27
A06AD11
ATC
lactulose; oral
2.3
7.0
66
316
B01AB05
ATC
enoxaparin; parenteral
2.0
7.0
114
689
GD1AD
NOMESCO Finland
Thorax CT examination
4.6
7.0
23
53
WZC10
NOMESCO Finland
Extensive specialist consultion with written report
3.6
6.8
29
85
XF400
NOMESCO Finland
ECG with 12 standard connections
2.2
6.6
70
353
N02AA05
ATC
oxycodone; systemic
2.3
6.6
64
311
A07AA02
ATC
nystatin; oral
3.4
6.6
31
98
J01CF02
ATC
cloxacillin; systemic
6.4
6.5
16
26
K59.09
ICD-10 Finland
Constipation, unspecified
3.2
6.5
33
111
X58
ICD-10 Finland
Exposure to other specified factors
2.4
6.5
54
245
I80.29
ICD-10 Finland
Phlebitis and thrombophlebitis of other deep vessels of lower extremities
5.1
6.4
19
39
WX110
NOMESCO Finland
Local anesthesy
1.8
6.4
244
1934
SPAT1083
SPAT
Initiation and monitoring of IV fluid therapy
4.3
6.4
22
53
GD1DD
NOMESCO Finland
High resolution CT examination of lungs
3.5
6.4
28
84
XPX99
NOMESCO Finland
Other diagnostic examination of periferal vessel
3.1
6.3
33
113
AA1AD
NOMESCO Finland
CT of head and brain
2.0
6.3
90
514
6BA02
NOMESCO Finland
NA
18.4
6.3
9
5
JAK03
NOMESCO Finland
Laparotomy and peritoneal irrigation
+∞
6.3
6
*
M36.8*D80.1
ICD-10 Finland
Systemic disorders of connective tissue in hypogammaglobulinaemia
+∞
6.3
6
*
D80.0
ICD-10 Finland
Hereditary hypogammaglobulinaemia
+∞
6.3
6
*
JAH33
NOMESCO Finland
Opening of laparostomy
+∞
6.3
6
*
NHW10
NOMESCO Finland
Reoperation for deep infection in in surgery of ankle or foot
+∞
6.3
6
*
D81.6
ICD-10 Finland
Major histocompatibility complex class I deficiency
+∞
6.3
6
*
J01XX08
ATC
linezolid; systemic
27.2
6.2
8
*
QDA10
NOMESCO Finland
Incision of skin of lower limb
27.2
6.2
8
*
ZX120
NOMESCO Finland
Intravenous
2.6
6.2
44
182
WX892
NOMESCO Finland
Monitored bed care
3.0
6.2
35
124
L28
ICPC
Limited function/disability (L)
2.2
6.2
63
312
JAH01
NOMESCO Finland
Laparoscopy
3.7
6.1
25
71
TDM10
NOMESCO Finland
Puncture of maxillary antrum
4.3
6.1
21
51
J04AB02
ATC
rifampicin; systemic
10.3
6.1
11
11
JN3CD
NOMESCO Finland
Abdominal CT examination both without and with contrast
4.7
6.1
19
42
R10.3
ICD-10 Finland
Pain localized to other parts of lower abdomen
2.0
6.0
81
451
SPAT1148
SPAT
Treatment of chronic ulcer or burn
2.3
6.0
55
258
Z71.3
ICD-10 Finland
Dietary counselling and surveillance
3.8
6.0
24
67

LabWAS

OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
cases
controls
unit
-log10(p)
N cases
N controls
23
16
15.20
25.55
3.6
2.1
12.8
10.3
%
—
17
10
26
25
11.06
23.80
3.8
1.8
1.2
0.9
e9/l
0.55
19
11
22
21
11.03
20.17
3.7
1.8
566.3
599.0
e6/l
0.06
17
16
86
340
2.95
15.97
2.6
1.7
—
—
—
0
0
146
754
2.48
15.94
3.4
2.2
3.0
3.1
mg/l
0.09
130
650
20
25
8.37
15.02
1.4
1.2
1.8
2.8
g/l
1.24
12
18
20
25
8.37
15.02
1.4
1.2
0.3
0.3
g/l
0.03
12
18
20
25
8.37
15.02
1.4
1.2
5.0
6.7
g/l
1.92
11
19
19
26
7.62
13.23
1.3
1.2
—
—
—
0
0
95
439
2.53
12.81
2.9
2.1
—
—
—
0
0
144
800
2.26
12.79
7.6
4.2
—
—
—
0
0
54
191
3.11
12.04
4.2
1.6
1.3
1.8
g/l
0.58
48
174
98
476
2.41
11.78
3.0
2.2
12.2
13.1
umol/l
0.45
89
435
204
1334
2.09
11.65
8.0
4.5
34.6
35.5
g/l
1.51
195
1244
212
1407
2.09
11.62
12.3
6.0
1.2
1.2
mmol/l
0.02
191
1281
16
8
20.76
11.22
5.2
1.3
656.0
790.9
u/ml
—
16
8
90
430
2.41
11.17
3.0
2.2
2.4
2.3
g/l
0.49
82
396
21
40
5.49
10.70
1.4
1.3
0.3
0.6
g/l
1.32
14
32
221
1533
2.00
10.25
13.7
6.4
1.2
1.2
mmol/l
0.18
184
1293
85
412
2.35
10.14
3.6
2.3
20.3
22.4
%
0.62
74
359
26
64
4.28
9.86
3.0
1.2
11.0
10.6
mg/l
0.11
26
57
183
1230
1.90
8.92
2.3
2.0
93.6
95.2
pmol/l
0.15
109
616
106
594
2.07
8.72
4.6
3.4
188.9
359.7
ng/l
0.50
80
459
149
951
1.91
8.39
6.9
3.7
7.4
7.4
ph
0.12
30
176
79
401
2.21
8.35
10.0
4.9
1.0
1.0
mmol/l
0.06
71
365
222
1626
1.83
7.92
9.4
5.6
10.1
12.0
umol/l
2.16
211
1547
68
333
2.26
7.82
3.5
2.8
1.8
1.8
%
0.05
62
300
88
481
2.07
7.65
6.3
3.2
0.8
0.8
mmol/l
0.75
80
455
239
1802
1.82
7.64
16.8
8.7
4.6
4.1
e9/l
2.38
216
1568
211
1535
1.80
7.58
12.9
5.3
0.0
0.0
e9/l
0.03
185
1321
210
1528
1.79
7.51
12.9
5.2
0.6
0.6
e9/l
1.77
185
1310
203
1464
1.79
7.47
12.6
5.2
59.1
57.0
%
1.60
197
1372
52
232
2.43
7.38
4.7
3.4
96.0
79.9
ng/l
0.64
46
208
214
1583
1.76
7.09
13.1
5.7
0.2
0.2
e9/l
0.09
190
1387
212
1566
1.76
7.04
13.0
5.3
2.0
2.0
e9/l
0.01
191
1381
197
1436
1.74
6.76
13.4
5.3
2.9
2.8
%
0.11
188
1333
149
1004
1.77
6.74
13.2
5.3
—
—
—
0
0
198
1448
1.73
6.70
13.9
5.5
8.5
8.5
%
0.09
192
1355
188
1369
1.71
6.36
4.3
2.6
152.6
115.2
ug/l
1.14
176
1261
200
1485
1.70
6.26
13.4
5.4
26.7
28.2
%
1.00
193
1382
107
666
1.83
6.23
3.8
2.6
5.2
5.5
e6/l
0.18
96
594
50
237
2.27
6.18
3.7
2.6
71.0
70.9
e9/l
0.00
36
187
138
929
1.74
6.15
3.5
3.0
7.0
7.5
mmol/l
0.57
112
785
172
1235
1.69
6.04
15.7
8.2
1.2
1.2
inr
0.19
47
358
67
360
2.04
6.03
4.4
2.5
4.9
8.2
umol/l
2.76
59
311
188
1393
1.66
5.79
13.7
5.4
0.6
0.7
%
1.12
182
1292
13
28
4.77
5.77
2.3
1.4
—
—
—
0
0
13
28
4.77
5.77
2.3
1.4
—
—
—
0
0
13
28
4.77
5.77
2.3
1.4
—
—
—
0
0
13
28
4.77
5.77
2.3
1.4
—
—
—
0
0
140
962
1.70
5.72
4.1
2.3
56.1
55.9
u/l
0.01
134
888
289
2408
1.74
5.57
14.7
6.8
83.1
79.5
u/l
0.70
276
2245
62
334
2.01
5.53
11.4
8.8
1.9
1.1
mmol/l
0.95
53
266
127
860
1.70
5.43
4.3
3.0
—
—
—
0
0
43
204
2.24
5.31
8.4
3.5
7.4
7.4
ph
—
7
24
99
629
1.76
5.30
2.9
1.4
2.1
2.5
g/l
1.20
60
381
41
191
2.28
5.28
1.7
1.2
222.6
316.2
u/ml
0.24
35
171
14
35
4.11
5.21
2.7
1.3
—
—
—
0
0
94
591
1.77
5.21
1.9
1.7
1238.7
1224.0
nmol/l
0.04
68
440
119
800
1.70
5.20
12.7
6.8
—
—
—
0
0
127
871
1.67
5.14
4.4
3.1
0.2
0.5
e6/l
2.31
107
662
12
27
4.55
5.07
4.0
2.6
—
—
—
0
0
62
349
1.92
4.87
1.8
1.4
—
—
—
0
0
45
226
2.12
4.83
3.1
2.6
154.4
190.5
ng/l
0.35
40
206
9
10
9.18
4.80
2.3
3.0
—
—
—
0
0
60
336
1.93
4.78
11.7
8.7
5.3
5.1
kpa
1.26
55
320
60
336
1.93
4.78
11.6
8.7
12.0
12.1
kpa
0.05
55
323
7
5
14.21
4.59
2.7
1.8
—
—
—
0
0
228
1836
1.57
4.58
9.8
4.8
7.0
6.6
mmol/l
1.03
221
1708
20
70
2.96
4.56
1.5
2.1
130.2
128.0
g/l
0.10
13
48
124
869
1.62
4.52
4.1
3.0
2024.5
273.7
mg/l
1.14
81
553
68
404
1.82
4.51
1.7
1.3
431.1
543.7
titre
0.30
18
93
38
184
2.18
4.48
1.3
1.3
—
—
—
0
0
25
100
2.60
4.47
4.8
3.3
—
—
—
0
0
24
94
2.65
4.47
1.8
1.3
296.5
300.6
ug/g
0.04
17
58
40
198
2.13
4.46
8.0
6.9
—
—
—
0
0
50
270
1.97
4.43
13.8
4.1
1.9
2.1
mmol/l
0.11
35
215
97
643
1.67
4.39
4.2
2.7
529.9
558.5
mosm/kgh2o
0.67
89
559
18
61
3.04
4.34
1.7
3.4
32.9
34.8
umol/l
0.14
13
52
41
209
2.07
4.25
2.8
2.4
—
—
—
0
0
133
960
1.58
4.25
4.6
3.3
22.9
127.6
e6/l
0.91
111
742
52
289
1.92
4.24
4.3
1.8
324.7
383.4
nmol/l
1.38
47
261
15
46
3.35
4.23
5.0
2.4
4.9
5.0
e9/l
0.08
15
46
67
406
1.78
4.16
2.0
1.6
—
—
—
0
0
274
2327
1.57
4.15
7.3
4.0
16.2
12.0
mm/h
4.42
259
2140
51
284
1.91
4.13
13.6
4.1
—
—
—
0
0
17
58
3.02
4.06
2.3
2.5
—
—
—
0
0
15
48
3.21
3.97
6.3
2.8
63.1
59.1
%
0.51
15
48
46
251
1.94
3.96
21.7
8.1
—
—
—
0
0
128
931
1.55
3.90
2.4
2.0
185.5
193.2
u/l
0.04
118
878
24
102
2.44
3.82
2.3
2.0
181.6
312.6
ug/l
0.76
24
95
67
417
1.73
3.79
1.5
1.2
—
—
—
0
0
46
257
1.89
3.70
3.2
2.3
3.3
6.6
ug/l
2.33
38
228
149
1136
1.50
3.60
5.3
3.8
171.3
115.6
e6/l
0.18
117
803
175
1379
1.48
3.59
18.4
9.0
0.0
0.0
e9/l
0.35
147
1127
104
734
1.56
3.58
1.8
1.6
18.8
21.2
nmol/l
1.16
94
611
47
268
1.85
3.56
16.6
7.3
1.2
1.3
mmol/l
0.69
42
252
133
993
1.51
3.54
3.5
2.2
—
—
—
0
0
13
41
3.24
3.52
3.5
2.7
—
—
—
0
0
96
669
1.57
3.49
2.6
1.8
1.3
1.2
mg/l
0.16
75
528
54
324
1.77
3.47
2.1
1.6
—
—
—
0
0
162
1265
1.47
3.44
2.4
2.1
—
—
—
0
0
37
197
1.97
3.43
1.1
1.3
—
—
—
0
0
26
122
2.21
3.34
1.9
2.1
1.8
1.5
g/l
0.61
21
107
11
33
3.40
3.21
3.2
3.5
—
—
—
0
0
16
61
2.69
3.17
5.3
2.8
—
—
—
0
0
122
916
1.48
3.10
4.5
3.7
19.2
8.4
mg/mmol
1.11
76
572
72
482
1.60
3.08
1.8
1.8
—
—
—
0
0
98
705
1.52
3.06
1.3
1.3
1.0
1.5
u/ml
0.48
28
203
179
1449
1.43
3.05
7.0
3.9
—
—
—
0
0
35
191
1.91
3.04
2.9
2.5
10.5
12.5
nmol/l
0.77
30
173
7
12
5.92
3.03
7.9
3.2
21.4
31.9
umol/l
—
7
12
9
21
4.36
3.01
1.4
1.0
—
—
—
0
0
9
21
4.36
3.01
3.7
3.2
—
—
—
0
0
42
245
1.80
2.97
7.7
3.8
1.1
0.9
%
0.22
17
80
104
763
1.49
2.95
4.7
2.4
346.1
5781.9
umol/l
2.61
92
649
14
52
2.75
2.92
1.1
1.1
—
—
—
0
0
6
9
6.75
2.87
2.7
1.4
—
—
—
0
0
38
218
1.82
2.84
7.3
3.8
0.3
0.3
%
0.01
12
50
16
65
2.52
2.82
2.1
1.9
—
—
—
0
0
41
242
1.77
2.80
4.5
3.8
1.2
1.2
mmol/l
0.88
36
216
16
66
2.48
2.74
2.9
2.2
16.3
15.7
%
—
9
30
190
1575
1.40
2.74
4.7
3.6
0.0
0.0
estimate
0.50
39
283
187
1549
1.39
2.69
4.8
3.6
0.0
0.0
estimate
0.00
38
293
39
230
1.77
2.68
7.9
4.0
0.1
0.1
%
0.05
15
71
28
150
1.93
2.59
11.1
3.5
—
—
—
0
0
8
20
4.06
2.58
1.5
1.2
—
—
—
0
0
6
11
5.52
2.55
1.3
1.2
—
—
—
0
0
36
214
1.75
2.42
8.1
4.1
0.0
0.1
%
0.49
13
57
247
2170
1.37
2.34
7.2
4.2
—
—
—
0
0
185
1555
1.36
2.33
6.0
4.9
0.0
0.0
estimate
0.00
38
292
9
28
3.26
2.32
1.9
1.4
—
—
—
0
0
14
60
2.38
2.24
2.0
1.5
—
—
—
0
0
27
151
1.85
2.22
17.2
12.2
—
—
—
0
0
12
48
2.55
2.20
1.1
1.1
—
—
—
0
0
15
67
2.29
2.20
29.0
5.0
—
—
—
0
0
8
24
3.38
2.19
1.4
1.1
—
—
—
0
0
55
376
1.54
2.16
2.3
2.2
152.2
142.0
ug/g
0.09
44
300
15
68
2.25
2.13
5.9
5.0
—
—
—
0
0
10
37
2.75
2.12
1.5
1.1
1.5
1.4
g/l
—
10
31
24
133
1.86
2.04
2.0
1.8
—
—
—
0
0
42
274
1.60
2.02
1.6
1.4
—
—
—
0
0
284
3074
0.73
2.02
4.8
4.4
1.4
1.5
mmol/l
2.55
255
2827
20
106
1.93
1.94
6.2
4.2
2.1
0.3
g/l
0.49
12
45
22
121
1.87
1.92
4.6
5.1
—
—
—
0
0
33
206
1.66
1.90
1.6
1.5
—
—
—
0
0
8
28
2.89
1.87
1.9
1.7
—
—
—
0
0
52
364
1.49
1.85
1.2
1.3
—
—
—
0
0
287
3090
0.74
1.85
4.8
4.4
4.5
4.7
mmol/l
3.07
263
2862
131
1076
1.32
1.84
4.7
3.2
2.4
2.4
mmol/l
1.01
117
937
294
3152
0.74
1.81
5.3
4.9
2.6
2.8
mmol/l
2.46
265
2895
8
29
2.79
1.80
1.6
1.2
—
—
—
0
0
13
60
2.21
1.79
1.8
1.4
—
—
—
0
0
11
47
2.38
1.79
1.5
1.2
—
—
—
0
0
90
1130
0.74
1.78
3.1
2.8
—
—
—
0
0
15
74
2.07
1.77
1.4
1.2
—
—
—
0
0
56
402
1.46
1.76
1.5
1.2
—
—
—
0
0
19
103
1.89
1.75
1.4
1.2
—
—
—
0
0
5
13
3.88
1.72
4.0
2.5
—
—
—
0
0
18
312
0.56
1.66
1.1
1.4
—
—
—
0
0
11
49
2.28
1.65
1.5
1.3
—
—
—
0
0
22
128
1.76
1.64
1.4
1.2
—
—
—
0
0
8
171
0.46
1.62
2.8
1.7
—
—
—
0
0
91
721
1.34
1.62
4.2
3.6
—
—
—
0
0
10
43
2.36
1.61
1.8
1.4
0.2
0.4
nmol/l
—
10
35
275
2961
0.77
1.61
4.1
3.9
1.5
1.3
mmol/l
4.08
248
2708
8
32
2.53
1.60
1.1
1.1
—
—
—
0
0
7
26
2.72
1.58
3.7
3.0
—
—
—
0
0
25
155
1.65
1.51
2.5
2.3
—
—
—
0
0
9
37
2.46
1.49
1.4
2.3
23.8
15.1
ug/l
—
9
37
83
660
1.33
1.44
9.8
4.4
—
—
—
0
0
82
651
1.33
1.44
1.8
1.7
436.9
7246824.4
pmol/l
0.50
67
552
9
39
2.34
1.44
2.0
1.7
—
—
—
0
0
20
119
1.72
1.40
1.3
1.1
—
—
—
0
0
265
2437
1.26
1.39
4.7
3.9
14.7
14.7
pmol/l
0.05
244
2210
20
120
1.70
1.37
1.2
1.1
—
—
—
0
0
5
17
2.96
1.36
1.0
3.3
58.2
88.7
nmol/l
—
5
17
16
90
1.81
1.35
5.6
4.5
24.1
26.4
mg/l
0.17
11
70
10
47
2.16
1.34
2.2
1.4
—
—
—
0
0
115
964
1.27
1.34
3.8
3.0
—
—
—
0
0
139
1195
1.25
1.31
5.6
3.6
26.6
40.7
ng/l
1.32
100
817
9
43
2.12
1.31
1.1
1.3
—
—
—
0
0
16
92
1.77
1.27
1.4
1.2
—
—
—
0
0
68
536
1.32
1.26
1.4
1.3
47.4
35.7
iu/ml
0.21
33
168
16
93
1.75
1.23
1.8
1.5
341.6
294.1
mu/l
0.42
16
85
8
39
2.07
1.16
1.4
2.0
—
—
—
0
0
15
89
1.71
1.09
1.5
1.3
—
—
—
0
0
33
237
1.43
1.09
1.7
1.4
—
—
—
0
0
7
33
2.14
1.06
2.1
1.5
30.9
32.2
pg
—
7
33
9
46
1.98
1.04
1.0
1.2
—
—
—
0
0
7
34
2.08
1.03
4.3
3.1
—
—
—
0
0
15
91
1.67
1.02
1.5
1.3
—
—
—
0
0
5
23
2.19
0.98
5.2
2.7
—
—
—
0
0
10
54
1.87
0.97
1.7
1.5
—
—
—
0
0
69
831
0.79
0.96
1.5
1.4
—
—
—
0
0
37
278
1.36
0.96
7.5
3.5
—
—
—
0
0
6
27
2.24
0.94
2.7
1.0
—
—
—
0
0
6
28
2.16
0.92
4.7
7.3
9.8
11.2
%
—
6
28
29
212
1.40
0.89
4.1
2.4
6.0
4.0
e9/l
1.04
21
167
238
2217
1.18
0.89
5.0
3.7
—
—
—
0
0
82
696
1.22
0.86
5.2
4.0
1.0
1.0
kg/l
—
10
93
15
96
1.58
0.85
1.5
1.3
—
—
—
0
0
8
45
1.79
0.84
1.5
1.6
—
—
—
0
0
328
3153
1.23
0.83
31.7
13.6
26.7
23.2
mg/l
1.11
290
2476
15
97
1.57
0.82
1.5
1.3
—
—
—
0
0
15
97
1.57
0.82
1.5
1.3
—
—
—
0
0
6
33
1.83
0.79
1.2
1.0
—
—
—
0
0
6
33
1.83
0.79
1.5
1.0
—
—
—
0
0
33
253
1.33
0.78
5.9
3.3
—
—
—
0
0
42
334
1.29
0.77
4.3
3.8
3.5
40.1
ug/l
0.95
32
287
32
246
1.33
0.75
1.2
1.2
—
—
—
0
0
34
264
1.31
0.74
7.3
3.6
—
—
—
0
0
7
39
1.81
0.73
1.3
2.2
—
—
—
0
0
5
26
1.93
0.71
1.0
1.4
—
—
—
0
0
5
26
1.93
0.71
2.0
1.4
—
—
—
0
0
103
911
1.18
0.70
4.6
3.6
—
—
—
0
0
7
42
1.68
0.68
1.1
1.3
—
—
—
0
0
5
28
1.80
0.66
2.0
1.3
—
—
—
0
0
302
2902
1.17
0.65
6.0
4.7
2.0
2.3
mu/l
0.24
278
2638
5
29
1.73
0.64
1.2
1.1
—
—
—
0
0
10
63
1.60
0.62
2.2
2.1
—
—
—
0
0
8
50
1.61
0.61
1.5
1.1
—
—
—
0
0
0
20
0.00
0.60
0.0
1.1
—
—
—
0
0
0
21
0.00
0.60
0.0
1.0
—
—
—
0
0
276
2643
1.15
0.59
34.7
17.1
14.1
13.7
%
4.75
271
2595
7
113
0.61
0.59
12.1
10.7
—
—
—
0
0
0
23
0.00
0.58
0.0
1.0
—
245.1
—
0
12
334
3245
1.18
0.58
33.8
15.8
4.0
4.0
mmol/l
0.38
328
3154
14
195
0.71
0.57
1.5
1.4
—
—
—
0
0
9
60
1.51
0.54
1.9
2.5
—
—
—
0
0
333
3239
1.17
0.54
33.7
15.7
139.4
139.7
mmol/l
1.15
326
3153
94
845
1.15
0.53
1.8
1.7
1.4
1.4
mmol/l
0.20
75
722
343
3502
0.85
0.49
41.6
20.1
7.4
6.6
e9/l
3.78
336
3400
296
3052
0.88
0.48
5.4
4.5
6.0
5.9
mmol/l
0.58
271
2799
42
492
0.84
0.48
2.7
3.0
1.2
0.7
ug/l
0.31
30
311
343
3501
0.85
0.48
41.4
20.0
90.8
91.1
fl
0.48
338
3448
95
867
1.13
0.43
4.9
3.3
—
—
—
0
0
5
31
1.62
0.43
2.0
2.6
—
—
—
0
0
13
96
1.37
0.42
1.5
1.3
—
—
—
0
0
0
16
0.00
0.41
0.0
1.0
—
223.0
—
0
16
0
16
0.00
0.41
0.0
1.0
—
—
—
0
0
0
17
0.00
0.40
0.0
1.5
—
—
—
0
0
344
3503
0.87
0.40
41.7
20.1
129.2
134.6
g/l
7.74
339
3446
0
18
0.00
0.40
0.0
1.2
—
—
—
0
0
0
18
0.00
0.40
0.0
1.2
—
—
—
0
0
8
61
1.32
0.39
1.3
1.2
—
—
—
0
0
344
3502
0.87
0.39
41.5
20.1
4.3
4.5
e12/l
3.66
337
3399
5
35
1.43
0.39
1.4
1.6
—
—
—
0
0
0
19
0.00
0.39
0.0
1.4
—
—
—
0
0
344
3501
0.87
0.38
41.3
20.0
30.1
30.3
pg
1.33
339
3448
283
2910
0.90
0.38
6.7
5.5
41.2
39.6
mmol/mol
1.70
269
2706
344
3500
0.87
0.37
41.5
20.1
255.5
251.0
e9/l
0.55
336
3411
5
37
1.36
0.37
2.0
3.2
2.5
3.2
nmol/l
—
5
37
6
41
1.47
0.36
1.3
1.1
—
—
—
0
0
6
42
1.44
0.35
1.3
1.3
—
—
nmol/l
—
0
0
67
607
1.12
0.35
4.0
2.7
2.5
2.5
mmol/l
1.37
55
533
16
127
1.27
0.34
2.1
2.8
—
—
—
0
0
58
523
1.13
0.33
1.4
1.3
18.1
12.0
u/ml
0.17
19
204
6
47
1.28
0.32
1.7
1.2
—
—
—
0
0
7
53
1.33
0.31
1.1
1.2
—
—
—
0
0
37
327
1.15
0.29
1.9
1.7
—
—
—
0
0
331
3362
0.91
0.27
19.0
9.7
27.0
25.0
u/l
1.61
322
3243
92
864
1.08
0.25
6.8
4.0
0.0
0.0
estimate
0.00
39
287
6
81
0.74
0.24
2.2
4.0
—
—
—
0
0
5
38
1.32
0.23
1.4
1.1
—
—
—
0
0
17
144
1.19
0.22
2.2
3.3
—
—
—
0
0
13
107
1.22
0.22
1.6
1.6
—
—
—
0
0
0
13
0.00
0.21
0.0
1.4
—
—
—
0
0
291
2859
1.07
0.20
30.7
14.9
38.7
39.8
%
1.27
200
2118
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
6
53
1.13
0.18
1.3
1.2
723.9
16.1
u/l
—
6
47
6
53
1.13
0.18
1.0
1.1
—
—
—
0
0
6
53
1.13
0.18
1.0
1.1
—
—
—
0
0
81
849
0.94
0.16
5.3
5.0
4.8
3.2
ug/l
0.39
70
756
22
203
1.09
0.10
2.5
2.5
—
—
—
0
0
7
82
0.85
0.07
1.0
1.1
—
—
—
0
0
22
232
0.95
0.05
1.9
1.7
—
—
—
0
0
29
280
1.04
0.03
1.4
1.4
—
—
—
0
0
28
290
0.96
0.03
2.5
1.4
—
—
—
0
0
329
3296
0.99
0.00
26.8
12.7
—
—
—
0
0
22
225
0.98
0.00
1.4
1.2
45.5
169.1
iu/ml
—
10
91
13
134
0.97
0.00
1.1
1.1
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
6.4
—
0
5
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
2.6
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
0.00
0.0
1.3
—
1.8
—
0
7
0
9
0.00
0.00
0.0
8.1
—
8.1
—
0
9
0
6
0.00
0.00
0.0
8.5
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
0.00
0.0
1.6
—
—
—
0
0
0
9
0.00
0.00
0.0
2.7
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.6
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
19.2
—
0
6
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
0.00
0.0
1.8
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint D3_COMBIMMUDEF and mortality.

Females

Parameter HR [95% CI] p-value
D3_COMBIMMUDEF 1.981 [1.72, 2.29] < 0.001
Birth year 0.995 [0.99, 1.0] 0.207

During the follow-up period (1.1.1998 — 31.12.2019), 454 out of 1489 females with D3_COMBIMMUDEF died.

Males

Parameter HR [95% CI] p-value
D3_COMBIMMUDEF 2.256 [1.92, 2.65] < 0.001
Birth year 0.986 [0.98, 1.0] 0.005

During the follow-up period (1.1.1998 — 31.12.2019), 516 out of 1183 males with D3_COMBIMMUDEF died.

Mortality risk

Mortality risk for people of age

years, who have D3_COMBIMMUDEF.

N-year risk Females Males
1 0.171% 0.394%
5 1.141% 2.075%
10 2.912% 5.699%
15 5.574% 11.202%
20 9.77% 18.871%

Relationships between endpoints

Index endpoint: D3_COMBIMMUDEF – Combined immunodeficiencies

GWS hits: -

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
rg [CI]
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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