Combined immunodeficiencies

D3_COMBIMMUDEF

Endpoint definition

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps

FinnGen

Phenotype data

519972

1. Apply sex-specific rule

None

519972

2. Check conditions

None

519972

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

398

6. Filter based on genotype QC (FinnGen only)

383

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 383 232 151
Unadjusted period prevalence (%) 0.08 0.08 0.07
Median age at first event (years) 54.10 49.57 61.05

-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

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
398
Matched controls
3980
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
D81.4
ICD-10 Finland
Nezelof syndrome
+∞
171.6
152
*
D81.0
ICD-10 Finland
Severe combined immunodeficiency [SCID] with reticular dysgenesis
+∞
120.0
109
*
T81.4
ICD-10 Finland
Infection following a procedure, not elsewhere classified
9.7
100.6
152
239
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
10.3
89.1
118
156
D81.8
ICD-10 Finland
Other combined immunodeficiencies
+∞
51.2
48
*
T81.0
ICD-10 Finland
Haemorrhage and haematoma complicating a procedure, not elsewhere classified
6.7
40.9
73
130
ZXD05
NOMESCO Finland
Urgent procedure
3.9
39.5
199
813
D81.9
ICD-10 Finland
Combined immunodeficiency, unspecified
+∞
38.1
36
*
TPH15
NOMESCO Finland
Insertion of central venous catheter through external or internal jugular vein
6.6
33.5
59
103
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
3.6
26.1
107
367
ZXE20
NOMESCO Finland
More than three and less than five hours
3.6
24.7
98
328
D81.2
ICD-10 Finland
Severe combined immunodeficiency [SCID] with low or normal B-cell numbers
+∞
23.1
22
*
WX408
NOMESCO Finland
General anesthesy, balanced
2.9
22.3
151
690
ZXE10
NOMESCO Finland
More than one and less than three hours
2.8
22.2
199
1053
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
3.6
22.1
84
272
D80.1
ICD-10 Finland
Nonfamilial hypogammaglobulinaemia
+∞
22.1
21
*
JN3AA
NOMESCO Finland
Abdominal X-ray examination without contrast
6.5
21.6
37
62
D81.1
ICD-10 Finland
Severe combined immunodeficiency [SCID] with low T- and B-cell numbers
+∞
21.0
20
*
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
2.8
20.9
160
775
J01MA12
ATC
levofloxacin; systemic
3.1
20.0
108
432
GD1AA
NOMESCO Finland
Thorax X-ray examination
2.6
19.9
220
1271
T81.3
ICD-10 Finland
Disruption of operation wound, not elsewhere classified
8.4
19.4
26
33
T81.8
ICD-10 Finland
Other complications of procedures, not elsewhere classified
8.1
18.9
26
34
WX700
NOMESCO Finland
Respiratory and circulatory monitoring
3.1
18.8
97
377
N02AX02
ATC
tramadol; systemic, rectal
2.5
18.6
213
1240
QDB10
NOMESCO Finland
Major dressing of wound of skin of lower limb
4.8
18.5
44
100
J01FF01
ATC
clindamycin; systemic
2.7
18.3
142
685
L04AX01
ATC
azathioprine; systemic
6.2
18.2
32
55
Z3226
NOMESCO Finland
Physiotherapist
2.9
18.0
111
475
120
Kela drug reimbursment
Hypogammaglobulinaemia
+∞
17.8
17
*
C03CA01
ATC
furosemide; systemic
2.5
17.3
160
835
JN3BD
NOMESCO Finland
Extensive abdominal CT
3.5
17.1
65
209
QX2XE
NOMESCO Finland
Ultrsound examination of soft tissue not elsewhere classified
7.1
16.8
26
39
A49.9
ICD-10 Finland
Bacterial infection, unspecified
3.4
16.8
69
233
UJF32
NOMESCO Finland
Coloscopy
2.6
16.2
130
632
WX404
NOMESCO Finland
Intravenous generell anesthesy
2.6
15.9
115
530
J06BA01
ATC
immunoglobulins, normal human, for extravascular adm.; systemic
+∞
15.7
15
*
TPH20
NOMESCO Finland
Insertion of central venous catheter through subclavian or brachiocephalic vein
6.6
15.7
26
42
NK6QA
NOMESCO Finland
Measurement of bone density from two or more locations with X-ray
4.2
15.4
43
111
TPH04
NOMESCO Finland
Cathetrisation of vein
2.6
14.9
114
539
WZC00
NOMESCO Finland
Treatment plan or consultation
2.3
14.8
164
916
J01MA02
ATC
ciprofloxacin; systemic
2.3
14.7
185
1089
R50.9
ICD-10 Finland
Fever, unspecified
2.8
14.6
83
337
NA3AA
NOMESCO Finland
Lumbar spine X-ray examination without contrast
3.3
14.4
61
209
ZXD10
NOMESCO Finland
Scheduled procedure
2.3
14.2
184
1094
A09
ICD-10 Finland
Other gastroenteritis and colitis of infectious and unspecified origin
2.6
13.9
95
424
GD1PA
NOMESCO Finland
X-ray examination of the lungs in one projection
3.2
13.8
61
214
P01AB01
ATC
metronidazole; oral, rectal
2.2
13.7
192
1172
ZXE30
NOMESCO Finland
More than five and less than seven hours
4.3
13.4
36
90
X59
ICD-10 Finland
Exposure to unspecified factor
2.6
13.4
97
444
Z01.8
ICD-10 Finland
Other specified special examinations
2.4
13.1
109
532
WX882
NOMESCO Finland
High dependency care
6.2
12.7
22
37
R4110
NOMESCO Finland
Physiotherapy
2.3
12.6
138
756
D80.9
ICD-10 Finland
Immunodeficiency with predominantly antibody defects, unspecified
+∞
12.6
12
*
Z3231
NOMESCO Finland
Registered nurse
2.2
12.4
137
753
N02AA59
ATC
codeine, combinations excl. psycholeptics; systemic
2.1
12.3
201
1288
PH2AE
NOMESCO Finland
Ultrasound examination of lower leg veins
2.9
12.3
62
235
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
5.6
12.0
23
43
GD1DD
NOMESCO Finland
High resolution CT examination of lungs
4.2
11.7
32
81
J01DA01
ATC
[U] cefalexin
2.2
11.7
272
1979
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
*
I70.2
ICD-10 Finland
Atherosclerosis of arteries of extremities
3.0
11.5
54
196
UGC12
NOMESCO Finland
Flexible bronchoscopy
3.4
11.5
43
136
JN1AE
NOMESCO Finland
Ultrasound examination of upper part of abdomen
3.1
11.5
52
185
FB1BD
NOMESCO Finland
Extensive CT examination of arteria pulmonalis
3.4
11.4
44
142
WX002
NOMESCO Finland
Sedation and analgesia
2.4
11.2
96
472
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
5.0
11.1
24
50
R10.4
ICD-10 Finland
Other and unspecified abdominal pain
2.1
11.0
160
971
QDB05
NOMESCO Finland
Revision of wound of skin of lower limb
5.4
10.9
22
43
WZC10
NOMESCO Finland
Written specialist consultation based on a referral from a dentist or a physician
4.1
10.9
31
81
ZXA00
NOMESCO Finland
Right side
2.1
10.8
133
756
N03AX16
ATC
[U] pregabalin
2.2
10.7
113
604
R60.9
ICD-10 Finland
Oedema, unspecified
3.9
10.4
31
84
JN3AD
NOMESCO Finland
Abdominal CT examination
2.8
10.2
56
221
J18.9
ICD-10 Finland
Pneumonia, unspecified
2.1
10.2
118
653
UJF45
NOMESCO Finland
Flexible sigmoidoscopy with biopsy
3.0
10.2
47
169
EB1HA
NOMESCO Finland
Panorama tomography of teeth and jaws or similar X-ray examination
2.0
10.0
169
1075
A46
ICD-10 Finland
Erysipelas
2.5
9.9
72
327
ZZA00
NOMESCO Finland
Split skin graft
4.9
9.9
22
47
WX892
NOMESCO Finland
Monitored bed care
3.1
9.8
42
144
SPAT1255
SPAT
Intravenous administration of medicine
3.6
9.8
34
102
Z2221
NOMESCO Finland
Medical doctor
2.1
9.8
129
749
GD1QA
NOMESCO Finland
Supine thorax X-ray examination
2.3
9.8
84
411
JAH00
NOMESCO Finland
Laparotomy
4.4
9.5
24
57
LWE00
NOMESCO Finland
Reoperation for deep haemorrhage in gynaecological surgery
18.1
9.5
14
8
H02AB09
ATC
hydrocortisone; systemic
5.3
9.5
19
37
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
2.0
9.2
152
954
JA3AT
NOMESCO Finland
Cathetrisation of abdominal cavity with ultrasound guidance
9.4
9.1
18
20
R91
ICD-10 Finland
Abnormal findings on diagnostic imaging of lung
2.8
9.1
48
186
L04AA01
ATC
[U] ciclosporin
12.9
8.9
15
12
H02AB06
ATC
prednisolone; systemic
1.9
8.8
197
1359
J01DB01
ATC
cefalexin; oral
2.3
8.8
332
2737
Z2446
NOMESCO Finland
Social worker
3.0
8.4
39
140
ZXE00
NOMESCO Finland
One hour or less
1.9
8.4
166
1096
SPAT1083
SPAT
Initiation and monitoring of IV fluid therapy
4.0
8.4
24
63
EP1AE
NOMESCO Finland
Neck ultrasound examination
3.2
8.2
33
109
B01AA03
ATC
warfarin; systemic
2.1
8.2
92
499
A41.0
ICD-10 Finland
Sepsis due to Staphylococcus aureus
7.1
8.2
19
28
JN4BD
NOMESCO Finland
Extensive body CT
2.5
8.1
53
228
XF400
NOMESCO Finland
ECG with 12 standard connections
2.2
8.1
76
384
UJF30
NOMESCO Finland
Ileoscopy through colon
2.6
8.1
50
210
FM1BE
NOMESCO Finland
Cardiac ultrasound examination through oesophagus
3.1
8.0
34
116
A06AD11
ATC
lactulose; oral
2.2
8.0
73
365
XLA10, ,
NOMESCO Finland
3.6
8.0
26
75
DM1QA
NOMESCO Finland
Paranasal sinuses X-ray examination in one projection
3.6
7.8
26
76
WX872
NOMESCO Finland
Intensive care
3.5
7.7
27
82
X58
ICD-10 Finland
Exposure to other specified factors
2.3
7.6
62
295
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
Z04.8
ICD-10 Finland
Examination and observation for other specified reasons
2.3
7.5
60
283
TGC00
NOMESCO Finland
Bronchial lavation
4.6
7.5
18
41
TPX10
NOMESCO Finland
Implantation of vascular injection port
4.3
7.4
19
46
A10AE04
ATC
insulin glargine; parenteral
2.6
7.3
46
194
B01AB05
ATC
enoxaparin; parenteral
1.9
7.3
134
856
D81.6
ICD-10 Finland
Major histocompatibility complex class I deficiency
+∞
7.3
7
*
M36.8*D80.1
ICD-10 Finland
Systemic disorders of connective tissue in hypogammaglobulinaemia
+∞
7.3
7
*
D80.0
ICD-10 Finland
Hereditary hypogammaglobulinaemia
+∞
7.3
7
*
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
2.7
7.3
40
158
C03DA01
ATC
spironolactone; oral
2.3
7.3
57
267
X57
ICD-10 Finland
Unspecified privation
4.6
7.2
17
38
XPX99
NOMESCO Finland
Other diagnostic examination of periferal vessel
2.8
7.2
36
135
WX110
NOMESCO Finland
Infiltration anesthesia
1.8
7.2
273
2162
ZX120
NOMESCO Finland
Intravenous
2.5
7.2
49
215
6BA02, ,
NOMESCO Finland
30.6
7.2
9
*
DM1AA
NOMESCO Finland
Paranasal sinuses X-ray examination without contrast
3.9
7.2
21
56
ZXA05
NOMESCO Finland
Left side
1.9
7.2
113
688
L02.4
ICD-10 Finland
Cutaneous abscess, furuncle and carbuncle of limb
4.2
7.2
19
47
A01AB10
ATC
natamycin; local oral
4.2
7.2
19
47
A07AA02
ATC
nystatin; oral
3.0
7.1
32
113
JAH01
NOMESCO Finland
Laparoscopy
3.3
7.1
27
86
A02BA02
ATC
ranitidine; systemic
2.0
7.1
93
531
ZXD35
NOMESCO Finland
Usual procedure
3.8
7.1
22
61
M05BA07
ATC
risedronic acid; oral
4.0
7.1
20
52
K56.6
ICD-10 Finland
Other and unspecified intestinal obstruction
3.8
7.0
21
57
J01CF02
ATC
cloxacillin; systemic
5.6
7.0
19
35
SPAT1262
SPAT
Handing over of treatment supplies
2.1
7.0
73
384
J01MA14
ATC
moxifloxacin; systemic
2.6
7.0
43
180
JFA15
NOMESCO Finland
Endoscopic polypectomy in colon
3.0
7.0
31
109
WX302
NOMESCO Finland
Thoracal epidural anesthesy
3.4
7.0
25
77
TPH90
NOMESCO Finland
Removal of fixed intravenous catheter
11.2
6.8
12
11
K80.0
ICD-10 Finland
Calculus of gallbladder with acute cholecystitis
3.6
6.8
22
63
L03AA02
ATC
filgrastim; parenteral
4.0
6.8
19
49
JN3CD
NOMESCO Finland
Abdominal CT examination both without and with contrast
4.0
6.8
19
49
ZXM00
NOMESCO Finland
Intraoperative use of ultrasonographic imaging
17.1
6.8
10
6
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
2.0
6.8
77
418
TQX10
NOMESCO Finland
Biopsy of skin and subcutaneous tissue
2.5
6.8
44
189
N05CF01
ATC
zopiclone; oral
1.8
6.7
140
926
J02AC01
ATC
fluconazole; systemic
1.8
6.7
165
1145
L97
ICD-10 Finland
Ulcer of lower limb, not elsewhere classified
3.8
6.7
20
54
NA3BG
NOMESCO Finland
Lumbar spine MRI examination with high intensity magnet
2.4
6.7
47
209
TDM10
NOMESCO Finland
Puncture of maxillary antrum
3.6
6.7
22
64
QDG20
NOMESCO Finland
Operation for chronic ulcer or fistula of skin of lower limb
12.5
6.6
11
9
K92.1
ICD-10 Finland
Melaena
3.1
6.6
28
96
N02AB03
ATC
fentanyl; nasal, sublingual, transdermal
3.3
6.5
24
75
T81.9
ICD-10 Finland
Unspecified complication of procedure
6.4
6.5
16
26
WW200
NOMESCO Finland
Immunization
5.9
6.5
17
30
M05BA04
ATC
alendronic acid; oral
2.5
6.5
41
174
R10.3
ICD-10 Finland
Pain localized to other parts of lower abdomen
1.9
6.4
90
525
D50.9
ICD-10 Finland
Iron deficiency anaemia, unspecified
2.6
6.4
37
150
127
Kela drug reimbursment
Transplant complication
8.4
6.4
13
16
I80.29
ICD-10 Finland
Phlebitis and thrombophlebitis of other deep vessels of lower extremities
3.6
6.4
21
61
KH1AE
NOMESCO Finland
Urinary tract ultrasound examination
2.9
6.4
30
109
L28
ICPC
Limited function/disability (L)
2.0
6.3
74
405
J04AB02
ATC
rifampicin; systemic
11.3
6.3
11
10
J10.1
ICD-10 Finland
Influenza with other respiratory manifestations, seasonal influenza virus identified
7.2
6.3
14
20
NHW10
NOMESCO Finland
Reoperation for deep infection in in surgery of ankle or foot
+∞
6.3
6
*
JAK03
NOMESCO Finland
Laparotomy and peritoneal irrigation
+∞
6.3
6
*
N08.2*D89.80
ICD-10 Finland
Immunoglobulin A (IgA) nephropathy
+∞
6.3
6
*
SPAT1148
SPAT
Treatment of chronic ulcer or burn
2.2
6.2
57
284
XG410
NOMESCO Finland
Flow-volume spirometry
3.5
6.2
21
62
123
Kela drug reimbursment
Chronic disorders of vitamin D metabolism
5.9
6.2
16
28
TQW11
NOMESCO Finland
Vacuum treatment of wound
5.9
6.2
16
28
N02AA05
ATC
oxycodone; systemic
2.0
6.2
79
446
I20.81
ICD-10 Finland
Other angina pectoris stenosed coronary artery
2.6
6.2
37
153
B01AC04
ATC
clopidogrel; oral
2.0
6.1
70
380
K59.09
ICD-10 Finland
Constipation, unspecified
2.7
6.1
34
135
NHU20
NOMESCO Finland
Removal of internal fixation device from ankle or foot
3.4
6.1
22
68
L04AA06
ATC
mycophenolic acid; systemic
6.9
6.1
14
21
GD1AD
NOMESCO Finland
Thorax CT examination
3.0
6.1
27
95

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
147
754
2.51
16.35
3.4
2.2
3.03
3.09
mg/l
0.13
131
650
86
340
2.95
15.97
2.6
1.7
—
—
—
0
0
145
800
2.28
13.15
7.6
4.2
—
—
—
0
0
95
440
2.52
12.74
2.9
2.1
—
—
—
0
0
99
476
2.44
12.20
3.0
2.2
12.23
13.05
umol/l
0.46
90
440
54
191
3.11
12.04
4.2
1.6
1.29
1.77
g/l
0.58
48
174
22
21
11.02
11.91
3.7
1.8
566.29
599.00
e6/l
0.06
17
16
212
1407
2.08
11.61
12.3
6.0
1.22
1.22
mmol/l
0.00
193
1287
91
430
2.45
11.60
3.0
2.2
2.40
2.33
g/l
0.49
83
396
204
1336
2.08
11.56
8.0
4.4
34.61
35.53
g/l
1.55
195
1248
16
8
20.76
11.22
5.3
1.3
656.00
790.88
u/ml
—
16
8
21
40
5.49
10.70
1.4
1.4
0.31
0.61
g/l
1.32
14
32
86
413
2.38
10.50
3.4
2.3
20.32
22.44
%
0.63
74
360
221
1533
1.99
10.24
13.7
6.4
1.22
1.22
mmol/l
0.23
186
1303
26
63
4.35
10.05
3.0
1.2
11.04
10.56
mg/l
0.11
26
56
20
25
8.36
9.45
1.4
1.2
4.96
6.74
g/l
1.92
11
19
20
25
8.36
9.45
1.4
1.2
1.78
2.79
g/l
1.24
12
18
20
25
8.36
9.45
1.4
1.2
0.33
0.33
g/l
0.03
12
18
184
1235
1.91
9.03
2.3
2.0
93.60
95.07
pmol/l
0.14
109
620
106
595
2.07
8.67
4.6
3.4
188.92
359.67
ng/l
0.50
80
459
19
26
7.62
8.55
1.3
1.2
—
—
—
0
0
149
951
1.91
8.38
6.8
3.7
7.40
7.40
ph
0.12
30
177
79
401
2.21
8.35
10.0
4.9
1.03
1.04
mmol/l
0.06
71
365
69
333
2.30
8.22
3.4
2.8
1.79
1.77
%
0.05
63
300
223
1627
1.84
8.13
9.4
5.6
10.11
12.00
umol/l
2.20
213
1548
240
1805
1.83
7.79
16.7
8.7
4.57
4.06
e9/l
2.33
217
1571
212
1538
1.81
7.73
12.8
5.3
0.04
0.04
e9/l
0.00
187
1327
88
481
2.06
7.65
6.3
3.2
0.80
0.82
mmol/l
0.75
80
455
211
1536
1.80
7.54
12.9
5.2
0.61
0.57
e9/l
1.69
186
1321
204
1472
1.79
7.50
12.5
5.2
59.10
56.97
%
1.61
198
1381
52
232
2.43
7.38
4.7
3.4
96.05
79.94
ng/l
0.64
46
208
215
1586
1.77
7.24
13.1
5.7
0.19
0.19
e9/l
0.07
191
1390
213
1575
1.76
7.04
12.9
5.3
1.98
1.98
e9/l
0.01
193
1398
198
1443
1.74
6.81
13.3
5.3
2.84
2.82
%
0.06
191
1345
199
1455
1.74
6.75
13.9
5.6
8.47
8.49
%
0.04
193
1362
51
237
2.32
6.60
3.6
2.6
70.70
70.89
e9/l
0.01
37
187
189
1374
1.72
6.45
4.3
2.6
152.03
114.84
ug/l
1.14
177
1266
201
1493
1.70
6.28
13.4
5.4
26.75
28.21
%
0.99
195
1401
107
667
1.83
6.20
3.8
2.6
5.16
5.51
e6/l
0.19
99
608
138
932
1.74
6.07
3.5
3.0
7.04
7.48
mmol/l
0.52
112
794
67
360
2.04
6.03
4.4
2.5
4.92
8.18
umol/l
2.76
59
311
189
1395
1.68
5.95
13.6
5.4
0.60
0.67
%
1.02
183
1294
141
963
1.72
5.93
4.1
2.3
56.29
57.30
u/l
0.06
135
891
192
1425
1.67
5.90
14.5
5.8
—
—
—
0
0
194
1447
1.66
5.83
25.2
12.9
1.22
1.26
inr
0.27
51
414
68
373
1.99
5.77
15.7
7.1
103.94
104.52
mmol/l
0.37
68
373
290
2412
1.75
5.68
14.7
6.8
83.25
79.44
u/l
0.76
277
2250
62
334
2.01
5.53
11.4
8.8
1.92
1.07
mmol/l
0.97
53
268
127
862
1.70
5.37
4.3
3.0
—
—
—
0
0
99
629
1.76
5.30
2.9
1.4
2.08
2.48
g/l
1.20
60
381
41
191
2.28
5.28
1.7
1.2
222.64
316.17
u/ml
0.24
35
171
43
205
2.23
5.25
8.4
3.5
7.40
7.41
ph
—
7
24
94
590
1.78
5.24
1.8
1.7
1238.71
1225.63
nmol/l
0.04
68
439
119
801
1.69
5.17
12.7
6.8
—
—
—
0
0
127
873
1.67
5.08
4.4
3.1
0.23
0.49
e6/l
2.29
107
667
62
349
1.92
4.87
1.8
1.4
—
—
—
0
0
45
226
2.12
4.83
3.1
2.6
154.42
190.50
ng/l
0.35
40
206
9
10
9.18
4.80
2.3
3.0
—
—
—
0
0
172
1289
1.59
4.79
3.8
2.2
78.80
76.76
nmol/l
0.39
154
1150
60
336
1.93
4.78
11.6
8.7
12.01
12.12
kpa
0.05
55
323
60
336
1.93
4.78
11.7
8.7
5.32
5.07
kpa
1.26
55
320
229
1840
1.58
4.68
9.8
4.7
7.03
6.60
mmol/l
1.02
222
1715
7
5
14.21
4.59
2.7
1.8
—
—
—
0
0
20
70
2.96
4.56
1.5
2.1
130.23
127.98
g/l
0.10
13
48
99
654
1.68
4.55
4.2
2.8
525.99
547.52
mosm/kgh2o
0.49
91
570
15
44
3.50
4.51
3.1
3.0
—
—
—
0
0
124
870
1.62
4.49
4.1
3.0
2024.55
271.02
mg/l
1.15
81
559
25
100
2.60
4.47
4.6
3.3
—
—
—
0
0
24
94
2.65
4.47
1.7
1.3
296.47
300.63
ug/g
0.04
17
58
40
198
2.13
4.46
8.0
6.9
—
—
—
0
0
68
406
1.81
4.44
1.7
1.3
431.11
540.00
titre
0.29
18
94
50
270
1.97
4.43
13.8
4.1
1.84
2.07
mmol/l
0.13
37
220
38
186
2.15
4.36
1.3
1.3
—
—
—
0
0
18
61
3.04
4.34
1.7
3.4
32.92
35.36
umol/l
0.19
13
56
15
46
3.35
4.23
5.0
2.4
4.85
5.03
e9/l
0.08
15
46
275
2333
1.58
4.21
7.2
3.9
16.16
11.99
mm/h
4.42
260
2146
41
210
2.06
4.20
2.8
2.4
—
—
—
0
0
52
290
1.91
4.20
4.3
1.8
324.68
384.13
nmol/l
1.41
47
262
133
963
1.57
4.18
4.6
3.3
22.94
127.11
e6/l
0.91
111
745
14
35
4.11
4.14
2.4
1.3
—
—
—
0
0
67
408
1.77
4.09
2.0
1.6
—
—
—
0
0
17
58
3.02
4.06
2.3
2.5
—
—
—
0
0
15
48
3.21
3.97
6.3
2.8
63.13
59.13
%
0.51
15
48
12
27
4.55
3.96
4.0
2.6
—
—
—
0
0
46
251
1.94
3.96
21.7
8.1
—
—
—
0
0
128
931
1.55
3.90
2.4
2.0
185.47
193.20
u/l
0.04
118
878
24
102
2.44
3.82
2.3
2.0
181.59
312.65
ug/l
0.76
24
95
105
734
1.58
3.79
1.8
1.6
18.75
21.25
nmol/l
1.23
95
610
27
122
2.30
3.76
1.9
2.1
1.77
1.50
g/l
0.62
22
107
67
418
1.72
3.76
1.5
1.2
—
—
—
0
0
46
257
1.89
3.70
3.2
2.3
3.26
6.64
ug/l
2.33
38
228
176
1383
1.49
3.68
18.3
9.0
0.00
0.00
e9/l
0.35
148
1131
149
1138
1.49
3.56
5.3
3.8
171.31
115.50
e6/l
0.18
117
804
50
291
1.82
3.55
3.2
2.2
37.16
28.72
u/l
0.53
45
241
163
1271
1.48
3.50
2.4
2.1
—
—
—
0
0
133
996
1.50
3.48
3.5
2.2
—
—
—
0
0
54
324
1.77
3.47
2.1
1.6
—
—
—
0
0
96
670
1.57
3.46
2.6
1.8
1.26
1.17
mg/l
0.16
75
529
73
480
1.64
3.36
3.3
3.1
2.86
2.76
e6/l
0.04
38
266
37
199
1.95
3.34
1.1
1.3
—
—
—
0
0
16
61
2.69
3.17
5.3
2.8
—
—
—
0
0
122
917
1.48
3.08
4.3
3.5
19.21
8.43
mg/mmol
1.11
76
573
35
191
1.91
3.04
2.9
2.5
10.47
12.52
nmol/l
0.76
30
173
98
706
1.51
3.04
1.3
1.3
0.99
1.45
u/ml
0.48
28
204
7
12
5.92
3.03
7.9
3.2
21.43
31.92
umol/l
—
7
12
9
21
4.36
3.01
1.4
1.0
—
—
—
0
0
9
21
4.36
3.01
3.7
3.1
—
—
—
0
0
72
485
1.59
3.00
1.8
1.8
—
—
—
0
0
42
245
1.80
2.97
7.7
3.8
1.00
0.87
%
0.17
21
93
179
1455
1.42
2.95
4.2
2.5
—
—
—
0
0
14
52
2.75
2.92
1.1
1.1
—
—
—
0
0
104
765
1.49
2.91
4.7
2.4
346.10
5700.41
umol/l
2.61
92
659
6
9
6.75
2.87
2.7
1.4
—
—
—
0
0
120
910
1.46
2.87
3.9
3.0
1853.19
1341.61
ng/l
0.65
108
773
38
218
1.82
2.84
7.3
3.8
0.33
0.49
%
0.36
18
71
11
33
3.40
2.83
3.2
3.3
—
—
—
0
0
16
65
2.52
2.82
2.1
1.9
—
—
—
0
0
41
242
1.77
2.80
4.5
3.8
1.25
1.23
mmol/l
0.88
36
216
16
66
2.48
2.74
2.9
2.2
16.32
15.67
%
—
9
30
39
230
1.77
2.68
7.9
4.0
0.11
0.10
%
0.02
18
77
190
1582
1.38
2.63
4.7
3.6
0.00
0.01
estimate
0.50
39
284
8
20
4.06
2.58
1.5
1.2
—
—
—
0
0
6
11
5.52
2.55
1.3
1.1
—
—
—
0
0
28
151
1.92
2.54
11.1
3.5
—
—
—
0
0
187
1561
1.37
2.51
4.8
3.6
0.00
0.00
estimate
0.50
42
315
36
214
1.75
2.42
8.1
4.1
0.00
0.13
%
0.49
14
62
248
2177
1.37
2.37
7.2
4.2
—
—
—
0
0
9
28
3.26
2.32
1.9
1.4
—
—
—
0
0
14
60
2.38
2.24
2.0
1.5
—
—
—
0
0
185
1562
1.34
2.23
6.0
4.8
0.00
0.00
estimate
-0.00
38
293
27
151
1.85
2.22
17.1
12.2
—
—
—
0
0
12
48
2.55
2.20
1.1
1.1
—
—
—
0
0
15
67
2.29
2.20
29.0
4.9
—
—
—
0
0
8
24
3.38
2.19
1.4
1.1
—
—
—
0
0
55
376
1.54
2.16
2.3
2.2
152.25
141.19
ug/g
0.09
44
302
15
68
2.25
2.13
5.9
5.0
—
—
—
0
0
10
37
2.75
2.08
1.5
1.1
1.49
1.39
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
285
3083
0.73
2.01
4.8
4.4
1.42
1.50
mmol/l
2.45
256
2839
20
106
1.93
1.94
6.2
4.2
2.13
0.29
g/l
0.49
12
45
57
403
1.48
1.93
1.5
1.2
—
—
—
0
0
22
121
1.87
1.92
4.6
5.1
—
—
—
0
0
33
206
1.66
1.90
1.6
1.5
—
—
—
0
0
90
1138
0.73
1.87
3.1
2.8
—
—
—
0
0
8
28
2.89
1.87
1.9
1.7
—
—
—
0
0
288
3099
0.74
1.83
4.8
4.4
4.49
4.71
mmol/l
3.16
264
2874
131
1077
1.32
1.82
4.7
3.2
2.37
2.35
mmol/l
0.98
117
943
52
366
1.48
1.80
1.2
1.3
—
—
—
0
0
8
29
2.79
1.80
1.6
1.2
—
—
—
0
0
295
3161
0.74
1.80
5.3
4.9
2.60
2.77
mmol/l
2.55
266
2908
11
47
2.38
1.79
1.5
1.2
—
—
—
0
0
15
74
2.07
1.77
1.4
1.2
—
—
—
0
0
19
103
1.89
1.75
1.4
1.2
—
—
—
0
0
13
61
2.17
1.73
1.8
1.4
—
—
—
0
0
5
13
3.88
1.72
4.0
2.5
—
—
—
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
175
0.45
1.61
2.8
1.7
—
—
—
0
0
8
32
2.53
1.60
1.1
1.1
—
—
—
0
0
10
43
2.36
1.60
1.8
1.4
0.16
0.37
nmol/l
—
10
35
276
2970
0.77
1.59
4.1
3.9
1.47
1.27
mmol/l
3.98
249
2717
91
723
1.34
1.59
4.2
3.6
—
—
—
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
19
314
0.59
1.49
1.1
1.4
—
—
—
0
0
9
37
2.46
1.49
1.4
2.3
23.78
15.14
ug/l
—
9
37
82
651
1.33
1.44
1.8
1.7
436.85
7246824.71
pmol/l
0.50
67
552
266
2443
1.27
1.43
4.7
3.9
14.65
14.68
pmol/l
0.07
245
2216
9
40
2.28
1.41
2.0
1.6
—
—
—
0
0
20
119
1.72
1.40
1.3
1.1
—
—
—
0
0
69
538
1.34
1.37
1.4
1.3
46.18
36.22
iu/ml
0.18
34
171
20
120
1.70
1.37
1.2
1.1
—
—
—
0
0
5
17
2.96
1.36
1.0
3.3
58.20
88.71
nmol/l
—
5
17
16
90
1.81
1.35
5.6
4.5
24.08
26.39
mg/l
0.17
11
70
10
47
2.16
1.34
2.2
1.4
—
—
—
0
0
117
983
1.27
1.34
3.8
3.0
—
—
—
0
0
9
43
2.12
1.31
1.1
1.3
—
—
—
0
0
139
1196
1.25
1.30
5.6
3.6
26.50
40.53
ng/l
1.33
101
822
16
92
1.77
1.27
1.4
1.2
—
—
—
0
0
16
93
1.75
1.23
1.7
1.5
341.63
294.12
mu/l
0.42
16
85
8
40
2.02
1.12
1.4
1.9
—
—
—
0
0
7
33
2.14
1.06
2.1
1.5
30.86
32.24
pg
—
7
33
33
239
1.42
1.04
1.7
1.4
—
—
—
0
0
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
15
91
1.67
1.02
1.5
1.3
—
—
—
0
0
37
277
1.37
0.98
7.5
3.5
—
—
—
0
0
7
36
1.96
0.97
2.9
2.4
14.17
13.35
%
—
7
36
10
54
1.87
0.97
1.7
1.5
—
—
—
0
0
6
27
2.24
0.94
2.7
1.0
—
—
—
0
0
239
2222
1.19
0.93
4.9
3.7
—
—
—
0
0
6
28
2.16
0.92
4.7
7.3
9.85
11.16
%
—
6
28
70
835
0.80
0.90
1.5
1.4
—
—
—
0
0
12
71
1.71
0.89
2.5
2.1
—
—
—
0
0
29
213
1.39
0.87
4.1
2.4
5.91
7.09
e9/l
0.22
22
175
329
3159
1.24
0.87
31.7
13.6
26.95
23.16
mg/l
1.24
291
2481
15
96
1.58
0.85
1.5
1.3
—
—
—
0
0
82
698
1.22
0.84
5.2
4.0
1.02
1.02
kg/l
—
10
93
8
46
1.75
0.83
1.5
1.5
—
—
—
0
0
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
5.8
3.3
—
—
—
0
0
42
334
1.29
0.77
4.3
3.8
3.49
40.08
ug/l
0.95
32
287
32
246
1.33
0.75
1.2
1.2
—
—
—
0
0
5
24
2.10
0.74
5.2
2.7
—
—
—
0
0
34
265
1.31
0.73
7.3
3.6
—
—
—
0
0
7
39
1.81
0.73
1.3
2.2
—
—
—
0
0
7
40
1.76
0.71
2.6
1.8
—
—
—
0
0
5
26
1.93
0.71
1.0
1.3
—
—
—
0
0
7
42
1.68
0.68
3.0
2.9
3.50
95.95
u/ml
—
7
42
103
913
1.17
0.68
4.6
3.6
—
—
—
0
0
288
2755
1.16
0.67
33.9
16.7
15.00
14.94
%
0.06
283
2712
5
28
1.80
0.66
2.0
1.3
—
—
—
0
0
5
29
1.73
0.64
1.2
1.1
—
—
—
0
0
303
2915
1.17
0.63
6.0
4.6
2.05
2.30
mu/l
0.24
279
2652
335
3250
1.19
0.62
33.7
15.7
3.98
3.97
mmol/l
0.33
329
3160
8
51
1.58
0.60
1.5
1.1
—
—
—
0
0
0
20
0.00
0.60
0.0
1.1
—
—
—
0
0
14
197
0.70
0.60
1.5
1.4
—
—
—
0
0
0
21
0.00
0.60
0.0
1.0
—
—
—
0
0
7
113
0.61
0.59
12.1
10.7
—
—
—
0
0
0
23
0.00
0.58
0.0
1.0
—
245.08
—
0
12
334
3245
1.18
0.57
33.6
15.7
139.41
139.68
mmol/l
1.14
327
3160
9
60
1.51
0.54
1.9
2.5
—
—
—
0
0
94
846
1.15
0.52
1.8
1.7
1.41
1.37
mmol/l
0.17
75
723
42
492
0.84
0.48
2.7
3.0
1.22
0.73
ug/l
0.31
30
311
344
3510
0.85
0.47
41.5
20.0
7.36
6.65
e9/l
3.75
337
3408
344
3510
0.85
0.47
41.4
20.0
90.83
91.10
fl
0.45
339
3457
297
3058
0.89
0.45
5.3
4.5
6.01
5.92
mmol/l
0.55
272
2805
217
2069
1.11
0.44
4.5
3.0
61.68
46.19
u/l
2.10
197
1945
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
15
0.00
0.41
0.0
2.3
—
8.87
—
0
15
0
15
0.00
0.41
0.0
1.5
—
—
—
0
0
0
16
0.00
0.41
0.0
1.0
—
—
—
0
0
0
17
0.00
0.40
0.0
1.0
—
221.18
—
0
17
0
17
0.00
0.40
0.0
1.5
—
—
—
0
0
59
524
1.15
0.40
1.4
1.3
18.14
11.99
u/ml
0.17
19
204
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
95
872
1.12
0.39
4.9
3.2
—
—
—
0
0
345
3512
0.87
0.39
41.6
20.1
129.15
134.55
g/l
7.91
340
3455
5
35
1.43
0.39
1.4
1.6
—
—
—
0
0
0
19
0.00
0.39
0.0
1.4
—
1.59
—
0
19
0
19
0.00
0.39
0.0
1.2
—
74.53
—
0
19
345
3511
0.87
0.38
41.4
20.0
4.35
4.47
e12/l
3.80
338
3408
345
3510
0.87
0.37
41.2
19.9
30.08
30.30
pg
1.29
340
3457
5
37
1.36
0.37
2.0
3.2
2.54
3.20
nmol/l
—
5
37
345
3509
0.87
0.37
42.4
20.1
38.94
40.00
%
2.86
320
3305
345
3509
0.87
0.37
41.4
20.0
255.66
251.09
e9/l
0.56
337
3420
6
41
1.47
0.36
1.3
1.1
—
—
—
0
0
6
42
1.43
0.35
1.3
1.3
—
—
nmol/l
—
0
0
67
608
1.12
0.34
4.0
2.7
2.49
2.45
mmol/l
1.39
55
534
16
127
1.27
0.34
2.1
2.8
—
—
—
0
0
284
2914
0.91
0.34
6.6
5.5
41.14
39.66
mmol/mol
1.66
270
2710
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
1.14
0.29
1.8
1.7
—
—
—
0
0
332
3371
0.91
0.26
19.0
9.7
27.02
25.01
u/l
1.59
323
3252
6
81
0.74
0.24
2.2
4.0
—
—
—
0
0
92
868
1.08
0.23
6.8
4.0
0.00
0.00
estimate
-0.00
39
288
5
39
1.29
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
6
53
1.13
0.18
1.3
1.2
723.92
16.13
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
4.79
3.22
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
329
3303
0.98
0.03
26.8
12.6
—
—
—
0
0
22
228
0.96
0.02
1.4
1.2
45.51
167.30
iu/ml
—
10
92
29
282
1.03
0.02
1.4
1.4
—
—
—
0
0
29
296
0.98
0.00
2.5
1.4
—
—
—
0
0
13
134
0.97
0.00
1.1
1.1
—
—
—
0
0
0
5
0.00
0.00
0.0
2.6
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
19.18
—
0
6
0
6
0.00
-0.00
0.0
1.0
—
6.04
—
0
6
0
6
0.00
-0.00
0.0
7.5
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.6
—
—
—
0
0
5
49
1.02
-0.00
2.0
1.5
35.36
29.44
u/l
—
5
42
0
8
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
1.85
—
0
7
0
9
0.00
-0.00
0.0
8.1
—
8.14
—
0
9

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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