obsolete_common variable immunodeficiency: ['A hypogammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells. Patients with common variable immunodeficiency have marked reduction in serum levels of both immunoglobulin G (IgG) and immunoglobulin A (IgA); about half of these patients also have reduced immunoglobulin M (IgM).', 'A primary immunodeficiency characterized by low levels or absence of all the immunoglobulin classes and lack of B-lymphocytes or plasma cells. It results in recurrent bacterial infections. Complications include autoimmune phenomena and cancer development.', 'Heterogeneous group of immunodeficiency syndromes characterized by hypogammaglobulinemia of most isotypes, variable B-cell defects, and the presence of recurrent bacterial infections.']
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
- |
4. Check minimum number of eventsNone |
- |
5. Include endpoints |
221 |
6. Filter based on genotype QC (FinnGen only) |
221 |
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
- Deficientia immunalis variabilis communis
Similar endpoints
↥List of similar endpoints to
Common variable immunodeficiency
based on the number of shared cases.
Similar with more cases:
- Immunodeficiencies
- Certain disorders involving the immune mechanism
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
- Any operation in hilmo
- Any event in hilmo or specialist outpatient
Similar with less cases:
- Other or unspecified common variable immunodeficiency
- Common variable immunodeficiency with predominant abnormalities of B-cell numbers and function
- Common variable immunodeficiency with predominant abnormalities of T-cell numbers and function
- Common variable immunodeficiency with autoantibodies to B- or T-cells
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 938 | 523 | 407 |
| Only index persons | 837 | 484 | 353 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.01 | 0.01 | 0.01 |
| Only index persons | 0.02 | 0.02 | 0.01 |
| Median age at first event (years) | |||
| Whole population | 50.88 | 51.24 | 50.30 |
| Only index persons | 49.07 | 50.37 | 47.29 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 221 | 140 | 81 |
| Unadjusted period prevalence (%) | 0.04 | 0.05 | 0.04 |
| Median age at first event (years) | 48.61 | 49.70 | 46.73 |
-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
- 201
- Matched controls
- 2009
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
120
Kela drug reimbursment
Hypogammaglobulinaemia
+∞
107.1
93
*
D83.9
ICD-10 Finland
Common variable immunodeficiency, unspecified
+∞
99.4
87
*
J06BA01
ATC
immunoglobulins, normal human, for extravascular adm.; systemic
+∞
98.2
86
*
D83.0
ICD-10 Finland
Common variable immunodeficiency with predominant abnormalities of B-cell numbers and function
+∞
89.4
79
*
D80.1
ICD-10 Finland
Nonfamilial hypogammaglobulinaemia
+∞
85.7
76
*
GD1DD
NOMESCO Finland
High resolution CT examination of lungs
28.6
44.4
61
30
D83.1
ICD-10 Finland
Common variable immunodeficiency with predominant immunoregulatory T-cell disorders
+∞
44.4
41
*
D80.9
ICD-10 Finland
Immunodeficiency with predominantly antibody defects, unspecified
+∞
43.3
40
*
J47
ICD-10 Finland
Bronchiectasis
170.4
40.4
41
*
6BA02
NOMESCO Finland
NA
+∞
39.9
37
*
ZX120
NOMESCO Finland
Intravenous
12.8
37.5
72
84
D80.3
ICD-10 Finland
Selective deficiency of immunoglobulin G [IgG] subclasses
+∞
35.5
33
*
D83.8
ICD-10 Finland
Other common variable immunodeficiencies
+∞
35.5
33
*
D80.0
ICD-10 Finland
Hereditary hypogammaglobulinaemia
+∞
28.8
27
*
J32.0
ICD-10 Finland
Chronic maxillary sinusitis
10.2
27.4
58
77
J01MA14
ATC
moxifloxacin; systemic
9.5
26.4
58
82
TDM10
NOMESCO Finland
Puncture of maxillary antrum
14.9
25.8
44
37
H02AB06
ATC
prednisolone; systemic
5.0
24.8
141
644
J18.9
ICD-10 Finland
Pneumonia, unspecified
5.3
23.1
86
247
D80.8
ICD-10 Finland
Other immunodeficiencies with predominantly antibody defects
+∞
22.3
21
*
GD1AA
NOMESCO Finland
Thorax X-ray examination
4.4
21.9
124
538
UGC12
NOMESCO Finland
Flexible bronchoscopy
9.8
21.9
46
59
DM1QA
NOMESCO Finland
Paranasal sinuses X-ray examination in one projection
13.5
21.6
38
34
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
6.0
21.3
66
150
J01MA12
ATC
levofloxacin; systemic
5.2
20.9
77
214
C01CA24
ATC
epinephrine; parenteral
9.2
20.7
45
61
DM1AA
NOMESCO Finland
Paranasal sinuses X-ray examination without contrast
15.5
20.6
34
26
WW200
NOMESCO Finland
Immunization
19.0
20.4
31
19
NK6QA
NOMESCO Finland
Measurement of bone density from tow or more locations with X-ray
8.4
19.1
44
65
R91
ICD-10 Finland
Abnormal findings on diagnostic imaging of lung
8.9
19.0
42
58
DMB20
NOMESCO Finland
Functional endoscopic opening of maxillary antrum
9.0
18.0
39
52
TPH04
NOMESCO Finland
Cathetrisation of vein
4.4
17.4
75
238
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
4.0
17.3
93
359
GD1ED
NOMESCO Finland
Extensive high resolution CT examination of lungs
15.3
17.1
28
21
UDH02
NOMESCO Finland
Rhinopharyngoscopy
8.1
16.5
38
56
GD1BD
NOMESCO Finland
Thorax extensive CT-examination
10.9
16.1
31
33
J01.0
ICD-10 Finland
Acute maxillary sinusitis
4.0
16.1
80
284
J15.9
ICD-10 Finland
Bacterial pneumonia, unspecified
7.4
15.9
39
63
D86.0
ICD-10 Finland
Sarcoidosis of lung
+∞
15.8
15
*
J32.4
ICD-10 Finland
Chronic pansinusitis
41.6
15.7
19
5
J01FA06
ATC
roxithromycin; oral
3.4
15.0
118
598
D86.8
ICD-10 Finland
Sarcoidosis of other and combined sites
+∞
14.8
14
*
Z2221
NOMESCO Finland
Medical doctor
3.6
14.6
85
341
R50.9
ICD-10 Finland
Fever, unspecified
4.4
14.2
57
165
H02AB07
ATC
prednisone; oral
4.5
14.2
55
154
TGC00
NOMESCO Finland
Bronchial lavation
20.8
13.2
19
10
GD1AD
NOMESCO Finland
Thorax CT examination
11.7
13.2
24
23
Z3231
NOMESCO Finland
Registered nurse
3.3
13.0
83
350
J01FA15
ATC
telithromycin; oral
4.8
12.9
46
117
J45.9
ICD-10 Finland
Asthma, unspecified
3.9
12.9
61
204
Z01.8
ICD-10 Finland
Other specified special examinations
3.5
12.7
71
271
D86.9
ICD-10 Finland
Sarcoidosis, unspecified
+∞
12.6
12
*
J45.1
ICD-10 Finland
Nonallergic asthma
6.5
12.5
33
59
M05BA04
ATC
alendronic acid; oral
6.0
12.4
35
68
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
3.1
12.3
89
406
J01FF01
ATC
clindamycin; systemic
3.1
11.4
81
363
J01EE01
ATC
sulfamethoxazole and trimethoprim; systemic
6.9
11.2
28
46
Z3226
NOMESCO Finland
Physiotherapist
3.5
11.1
59
214
R03AK04
ATC
salbutamol and sodium cromoglicate; inhalant
46.0
11.1
13
*
JN1AE
NOMESCO Finland
Ultrasound examination of upper part of abdomen
4.7
10.9
38
94
R03AK06
ATC
salmeterol and fluticasone; inhalant
3.9
10.7
48
151
SPAT1262
SPAT
Handing over of treatment supplies
3.5
10.7
56
199
D80.2
ICD-10 Finland
Selective deficiency of immunoglobulin A [IgA]
+∞
10.5
10
*
M36.8*D80.1
ICD-10 Finland
Systemic disorders of connective tissue in hypogammaglobulinaemia
+∞
10.5
10
*
WE300
NOMESCO Finland
Profylactive therapy of malignancy with biomoidiers
+∞
10.5
10
*
J05AB11
ATC
valaciclovir; oral
4.0
10.5
45
136
J01MA02
ATC
ciprofloxacin; systemic
2.8
10.5
99
521
D69.3
ICD-10 Finland
Idiopathic thrombocytopenic purpura
24.9
10.4
14
6
J01CR02
ATC
amoxicillin and beta-lactamase inhibitor; systemic
2.7
10.3
126
773
R01AD09
ATC
mometasone; nasal
2.7
10.3
116
679
XG412
NOMESCO Finland
Flow-volume spirometry with bronchospasmolysis
6.1
10.3
28
52
203
Kela drug reimbursment
Chronic asthma and similar chronic obstructive pulmonary diseases
3.2
10.1
61
240
J45.8
ICD-10 Finland
Mixed asthma
9.5
10.0
20
23
R01AD05
ATC
budesonide; nasal
5.1
9.8
31
69
A07AA02
ATC
nystatin; oral
5.7
9.5
27
53
B99
ICD-10 Finland
Other and unspecified infectious diseases
23.0
9.5
13
6
J06BA02
ATC
immunoglobulins, normal human, for intravascular adm.; systemic
+∞
9.4
9
*
132
Kela drug reimbursment
Sarcoidosis
+∞
9.4
9
*
J02AC01
ATC
fluconazole; systemic
2.6
9.3
101
564
UJF30
NOMESCO Finland
Ileoscopy through colon
4.2
9.2
36
100
J20.9
ICD-10 Finland
Acute bronchitis, unspecified
3.3
9.1
50
183
J06.9
ICD-10 Finland
Acute upper respiratory infection, unspecified
2.5
9.0
111
663
H02AB09
ATC
hydrocortisone; systemic
11.5
9.0
16
15
H02AB04
ATC
methylprednisolone; systemic
3.4
8.9
46
161
J01EE02
ATC
sulfadiazine and trimethoprim; systemic
2.7
8.9
75
362
A49.9
ICD-10 Finland
Bacterial infection, unspecified
4.4
8.9
32
82
A07EA06
ATC
budesonide; oral, local oral
8.9
8.8
18
22
DNB20
NOMESCO Finland
Endoscopic ethmoidectomy
10.7
8.7
16
16
K52.9
ICD-10 Finland
Noninfective gastroenteritis and colitis, unspecified
7.9
8.7
19
26
J84.8
ICD-10 Finland
Other specified interstitial pulmonary diseases
17.2
8.7
13
8
ZXD30
NOMESCO Finland
Difficulties in perfomrming procedure
7.3
8.6
20
30
ZXE10
NOMESCO Finland
More than one and less than three hours
2.5
8.5
86
459
ZXA00
NOMESCO Finland
Right side
2.8
8.5
66
301
DM1AD
NOMESCO Finland
CT of paranasal sinuses and face area
6.6
8.4
21
35
R03DA04
ATC
theophylline; systemic, rectal
6.6
8.4
21
35
XX6XT
NOMESCO Finland
Other intravascular therapy with radiological guidance
+∞
8.4
8
*
D83.2
ICD-10 Finland
Common variable immunodeficiency with autoantibodies to B- or T-cells
+∞
8.4
8
*
D86.2
ICD-10 Finland
Sarcoidosis of lung with sarcoidosis of lymph nodes
+∞
8.4
8
*
J45.0
ICD-10 Finland
Predominantly allergic asthma
4.0
8.3
34
98
UJF32
NOMESCO Finland
Coloscopy
2.7
8.3
64
292
XG470
NOMESCO Finland
Measurement of diffusion capastity of the lungs
8.7
8.3
17
21
R4110
NOMESCO Finland
Physiotherapy
2.7
8.3
65
298
R03BB04
ATC
tiotropium bromide; inhalant
4.3
8.1
30
79
117
Kela drug reimbursment
Leukaemia and other malignant diseases of the blood and bone marrow, and malignant diseases of the lymphatic tissue
8.0
7.9
17
23
J01FA09
ATC
clarithromycin; systemic
2.5
7.8
80
424
R03AC12
ATC
salmeterol; inhalant
6.6
7.8
19
31
J46
ICD-10 Finland
Status asthmaticus
8.6
7.8
16
20
R59.1
ICD-10 Finland
Generalized enlarged lymph nodes
19.3
7.7
11
6
WX408
NOMESCO Finland
General anesthesy, balanced
2.6
7.7
65
312
R03DC03
ATC
montelukast; oral
3.0
7.7
49
197
TPH90
NOMESCO Finland
Removal of fixed intravenous catheter
26.1
7.6
10
*
ZXD10
NOMESCO Finland
Scheduled procedure
2.4
7.6
90
512
TQX10
NOMESCO Finland
Biopsy of skin and subcutaneous tissue
4.1
7.6
29
79
ZXE20
NOMESCO Finland
More than three and less than five hours
3.2
7.6
41
147
Z04.8
ICD-10 Finland
Examination and observation for other specified reasons
3.3
7.5
39
137
J01DA01
ATC
[U] cefalexin; systemic
2.3
7.5
137
959
D73.1
ICD-10 Finland
Hypersplenism
+∞
7.3
7
*
N02AX02
ATC
tramadol; systemic, rectal
2.3
7.3
93
545
UJF92
NOMESCO Finland
Capsular endoscopy
8.4
7.2
15
19
1XC02
NOMESCO Finland
NA
31.2
7.2
9
*
R03AL02
ATC
salbutamol and ipratropium bromide; inhalant
20.9
7.2
10
5
J01DA06
ATC
[U] cefuroxime; systemic
3.0
7.2
44
173
P01AB01
ATC
metronidazole; oral, rectal
2.3
7.1
92
542
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
3.3
7.1
37
130
J01DA08
ATC
[U] cefaclor; oral
3.3
7.1
37
130
R03BA02
ATC
budesonide; inhalant
2.7
7.1
52
227
C03CA01
ATC
furosemide; systemic
2.6
7.1
57
264
XW000
NOMESCO Finland
Bone marrow biopsy
7.1
7.0
16
24
K90.0
ICD-10 Finland
Coeliac disease
8.8
6.9
14
17
Z01.0
ICD-10 Finland
Examination of eyes and vision
2.9
6.9
43
170
J32.8
ICD-10 Finland
Other chronic sinusitis
41.5
6.8
8
*
J32.9
ICD-10 Finland
Chronic sinusitis, unspecified
41.5
6.8
8
*
R03AC02
ATC
salbutamol; inhalant
2.2
6.7
120
812
A02BC01
ATC
omeprazole; systemic
2.4
6.6
66
341
ZXE00
NOMESCO Finland
One hour or less
2.2
6.5
90
541
R05
ICD-10 Finland
Cough
2.6
6.5
51
230
E83.1
ICD-10 Finland
Disorders of iron metabolism
72.0
6.5
7
*
B99
ICPC
Blood/lymph/spleen disease other
72.0
6.5
7
*
D59.1
ICD-10 Finland
Other autoimmune haemolytic anaemias
72.0
6.5
7
*
GD1CG
NOMESCO Finland
Extensive examination of lungs and pleura with high intensity magnet
72.0
6.5
7
*
ND2AA
NOMESCO Finland
Hand and fingers X-ray examination
3.7
6.5
27
80
XF400
NOMESCO Finland
ECG with 12 standard connections
2.9
6.5
41
165
A10AB05
ATC
insulin aspart; parenteral (insulins and analog. for injection, fast-acting)
3.8
6.4
26
75
PJ2AE
NOMESCO Finland
Lymphnode ultrasound examination
18.7
6.3
9
5
D84.9
ICD-10 Finland
Immunodeficiency, unspecified
+∞
6.3
6
*
D81.0
ICD-10 Finland
Severe combined immunodeficiency [SCID] with reticular dysgenesis
+∞
6.3
6
*
D80.6
ICD-10 Finland
Antibody deficiency with near-normal immunoglobulins or with hyperimmunoglobulinaemia
+∞
6.3
6
*
TPH00
NOMESCO Finland
Phlebotomy
+∞
6.3
6
*
B29
ICPC
Lymph/immune mech sympt/complt other
27.6
6.3
8
*
Z31.5
ICD-10 Finland
Genetic counselling
4.3
6.2
22
56
A05AA02
ATC
ursodeoxycholic acid; oral
13.1
6.1
10
8
J01AA02
ATC
doxycycline; systemic
2.4
6.0
164
1306
Mortality – FinRegistry
↥Association
Association between endpoint D3_CVID and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| D3_CVID | 3.228 [2.32, 4.48] | < 0.001 |
| Birth year | 0.996 [0.99, 1.0] | 0.337 |
During the follow-up period (1.1.1998 — 31.12.2019), 106 out of 476 females with D3_CVID died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| D3_CVID | 3.026 [2.02, 4.54] | < 0.001 |
| Birth year | 0.983 [0.97, 0.99] | < 0.001 |
During the follow-up period (1.1.1998 — 31.12.2019), 104 out of 347 males with D3_CVID died.
Mortality risk
Mortality risk for people of age
years, who have D3_CVID.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.287% | 0.681% |
| 5 | 2.034% | 3.255% |
| 10 | 5.02% | 7.718% |
| 15 | 8.881% | 14.648% |
| 20 | 15.33% | 23.297% |
Relationships between endpoints
↥Index endpoint: D3_CVID – Common variable immunodeficiency
GWS hits: -
Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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