Common variable immunodeficiency with predominant abnormalities of B-cell numbers and function

D3_CVID_BCELL

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.']

Suggest a new description

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 D83.0
  • Cause of death: ICD-10 D83.0

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

84

4. Check minimum number of events

None

84

5. Include endpoints

None

84

6. Filter based on genotype QC (FinnGen only)

84

Control definitions (FinnGen only)

Control exclude
D3_IMMUNEMECHANISM

Extra metadata

Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
D83
Name in latin
Deficientia immunalis variabilis communis praecipue cum abnormalitatibus numeri et functionis cellularum B

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 312 164 146
Only index persons 287 154 133
Unadjusted period prevalence (%)
Whole population 0.00 0.00 0.00
Only index persons 0.01 0.01 0.01
Median age at first event (years)
Whole population 49.79 49.97 49.50
Only index persons 47.93 48.90 46.80

-FinnGen-

Key figures

All Female Male
Number of individuals 84 51 33
Unadjusted period prevalence (%) 0.02 0.02 0.01
Median age at first event (years) 45.94 46.37 45.27

-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

No data

-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
79
Matched controls
787
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
D83.0
ICD-10 Finland
Common variable immunodeficiency with predominant abnormalities of B-cell numbers and function
+∞
113.6
79
*
120
Kela drug reimbursment
Hypogammaglobulinaemia
+∞
66.2
54
*
J06BA01
ATC
immunoglobulins, normal human, for extravascular adm.; systemic
+∞
57.4
48
*
D80.1
ICD-10 Finland
Nonfamilial hypogammaglobulinaemia
+∞
45.2
39
*
GD1DD
NOMESCO Finland
High resolution CT examination of lungs
67.8
31.4
35
9
ZX120
NOMESCO Finland
Intravenous
16.4
21.4
37
40
D83.9
ICD-10 Finland
Common variable immunodeficiency, unspecified
+∞
20.7
19
*
J32.0
ICD-10 Finland
Chronic maxillary sinusitis
18.8
19.6
31
26
6BA02
NOMESCO Finland
NA
245.7
19.4
19
*
J47
ICD-10 Finland
Bronchiectasis
70.2
19.0
21
*
C01CA24
ATC
epinephrine; parenteral
20.0
18.9
29
22
D80.3
ICD-10 Finland
Selective deficiency of immunoglobulin G [IgG] subclasses
+∞
17.3
16
*
D80.0
ICD-10 Finland
Hereditary hypogammaglobulinaemia
+∞
17.3
16
*
D80.9
ICD-10 Finland
Immunodeficiency with predominantly antibody defects, unspecified
+∞
17.3
16
*
WW200
NOMESCO Finland
Immunization
37.4
16.1
20
7
J01MA12
ATC
levofloxacin; systemic
9.9
16.0
36
61
J18.9
ICD-10 Finland
Pneumonia, unspecified
8.9
15.5
38
74
TDM10
NOMESCO Finland
Puncture of maxillary antrum
18.5
14.9
23
17
J01MA14
ATC
moxifloxacin; systemic
10.8
13.0
26
34
D83.8
ICD-10 Finland
Other common variable immunodeficiencies
+∞
11.7
11
*
GD1AA
NOMESCO Finland
Thorax X-ray examination
5.5
11.7
52
203
GD1ED
NOMESCO Finland
Extensive high resolution CT examination of lungs
33.4
11.2
14
5
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
5.4
11.0
42
136
DM1AA
NOMESCO Finland
Paranasal sinuses X-ray examination without contrast
38.2
10.7
13
*
D80.8
ICD-10 Finland
Other immunodeficiencies with predominantly antibody defects
+∞
10.6
10
*
D86.0
ICD-10 Finland
Sarcoidosis of lung
+∞
10.6
10
*
H02AB06
ATC
prednisolone; systemic
4.9
10.1
54
242
DMB20
NOMESCO Finland
Functional endoscopic opening of maxillary antrum
11.0
10.0
19
22
DM1QA
NOMESCO Finland
Paranasal sinuses X-ray examination in one projection
13.2
9.9
17
16
J01.0
ICD-10 Finland
Acute maxillary sinusitis
5.0
9.5
37
118
H02AB07
ATC
prednisone; oral
6.5
9.1
25
52
UGC12
NOMESCO Finland
Flexible bronchoscopy
8.5
9.1
20
30
Z01.8
ICD-10 Finland
Other specified special examinations
5.2
9.0
32
91
TPH04
NOMESCO Finland
Cathetrisation of vein
5.2
8.8
31
87
Z04.8
ICD-10 Finland
Examination and observation for other specified reasons
6.8
8.8
23
45
D69.3
ICD-10 Finland
Idiopathic thrombocytopenic purpura
100.2
8.6
9
*
NK6QA
NOMESCO Finland
Measurement of bone density from tow or more locations with X-ray
9.0
8.6
18
25
GD1BD
NOMESCO Finland
Thorax extensive CT-examination
9.0
8.6
18
25
D86.8
ICD-10 Finland
Sarcoidosis of other and combined sites
+∞
8.5
8
*
J15.9
ICD-10 Finland
Bacterial pneumonia, unspecified
8.3
8.2
18
27
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
4.2
8.1
39
147
J01MA02
ATC
ciprofloxacin; systemic
4.0
7.9
44
188
UDH02
NOMESCO Finland
Rhinopharyngoscopy
8.3
7.8
17
25
J01FA06
ATC
roxithromycin; oral
3.9
7.8
48
224
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
5.6
7.6
23
54
SPAT1262
SPAT
Handing over of treatment supplies
4.9
7.6
27
76
M05BA04
ATC
alendronic acid; oral
8.4
7.5
16
23
J01FF01
ATC
clindamycin; systemic
4.1
7.4
36
134
R01AD09
ATC
mometasone; nasal
3.8
7.3
53
277
J32.4
ICD-10 Finland
Chronic pansinusitis
33.3
7.3
9
*
J84.8
ICD-10 Finland
Other specified interstitial pulmonary diseases
33.3
7.3
9
*
J01FA15
ATC
telithromycin; oral
5.6
7.3
22
51
R50.9
ICD-10 Finland
Fever, unspecified
4.7
6.7
24
67
A02BC01
ATC
omeprazole; systemic
4.0
6.6
30
105
R21
ICD-10 Finland
Rash and other nonspecific skin eruption
16.1
6.6
10
7
J01FA09
ATC
clarithromycin; systemic
3.5
6.5
39
170
TGC00
NOMESCO Finland
Bronchial lavation
12.5
6.5
11
10
XG470
NOMESCO Finland
Measurement of diffusion capastity of the lungs
20.0
6.4
9
5
R91
ICD-10 Finland
Abnormal findings on diagnostic imaging of lung
6.6
6.4
16
29
D59.1
ICD-10 Finland
Other autoimmune haemolytic anaemias
+∞
6.3
6
*
132
Kela drug reimbursment
Sarcoidosis
+∞
6.3
6
*
129
Kela drug reimbursment
Idiopathic thrombocytopaenia or granulocytopenia
+∞
6.3
6
*
D80.2
ICD-10 Finland
Selective deficiency of immunoglobulin A [IgA]
+∞
6.3
6
*
D86.9
ICD-10 Finland
Sarcoidosis, unspecified
+∞
6.3
6
*
M36.8*D80.1
ICD-10 Finland
Systemic disorders of connective tissue in hypogammaglobulinaemia
+∞
6.3
6
*
C03CA01
ATC
furosemide; systemic
4.3
6.2
24
72

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
66
153
16.46
33.87
5.7
1.4
0.8
2.3
g/l
10.61
34
108
33
6
88.79
30.92
1.8
1.2
1.0
—
e9/l
—
27
0
68
223
11.76
23.31
18.8
4.8
—
—
—
0
0
22
5
58.47
19.35
1.5
1.0
—
—
—
0
0
37
76
7.91
19.29
4.8
1.3
—
—
—
0
0
51
178
5.75
14.44
19.2
6.9
—
—
—
0
0
35
96
5.54
12.90
2.6
2.2
130.0
102.0
ug/g
0.29
29
77
43
146
4.99
12.17
7.5
4.7
—
—
—
0
0
33
94
5.14
11.48
4.2
2.9
—
—
—
0
0
28
71
5.42
11.12
3.8
2.0
2.5
2.5
g/l
0.09
28
65
17
26
7.94
11.10
2.9
2.9
—
—
—
0
0
30
81
5.21
11.08
2.6
1.7
—
—
—
0
0
15
8
22.42
10.72
3.8
2.8
—
—
—
0
0
44
165
4.50
10.69
7.2
3.9
94.7
95.7
%
0.12
44
165
29
91
4.34
8.67
1.7
1.7
—
—
—
0
0
7
0
+∞
7.39
1.6
0.0
—
—
—
0
0
42
188
3.47
7.30
5.6
4.0
7.4
7.4
ph
—
5
28
19
49
4.72
7.17
4.4
3.1
—
—
—
0
0
19
49
4.72
7.17
4.4
2.7
5.7
5.8
kpa
0.21
19
49
6
0
+∞
6.32
3.2
0.0
—
—
—
0
0
18
49
4.40
6.32
8.7
4.3
0.4
0.3
%
—
5
11
38
181
3.01
5.66
4.4
2.6
—
—
—
0
0
24
87
3.46
5.63
1.3
1.2
—
—
—
0
0
38
182
2.99
5.59
4.4
2.6
0.2
0.4
e6/l
0.41
32
138
18
55
3.89
5.39
11.2
4.3
0.6
0.8
%
—
5
19
5
0
+∞
5.25
1.6
0.0
28.4
—
%
—
5
0
5
0
+∞
5.25
1.6
0.0
—
—
—
0
0
10
19
5.84
5.18
1.6
1.7
—
—
—
0
0
36
174
2.87
5.13
1.6
2.1
—
—
—
0
0
14
37
4.34
5.05
1.2
1.6
—
—
—
0
0
15
42
4.13
5.03
3.4
2.3
4.3
4.6
kpa
0.27
15
42
42
228
2.68
4.70
9.5
5.5
1.1
1.1
inr
0.43
11
73
10
21
5.27
4.66
1.0
1.3
—
—
—
0
0
44
246
2.66
4.62
4.9
3.4
599.6
49.1
e6/l
0.49
32
176
35
177
2.68
4.47
14.9
4.8
—
—
—
0
0
12
31
4.35
4.43
9.3
6.3
24.1
25.1
mmol/l
0.28
12
31
30
144
2.69
4.21
1.6
1.8
—
—
—
0
0
14
43
3.71
4.12
11.0
10.8
—
—
—
0
0
38
214
2.42
3.75
4.4
2.8
48.3
24.8
e6/l
0.37
31
169
6
6
10.63
3.55
1.5
1.2
—
—
—
0
0
6
6
10.63
3.55
1.5
1.2
—
—
—
0
0
6
6
10.63
3.55
1.5
1.2
—
—
—
0
0
6
6
10.63
3.55
1.5
1.2
—
—
—
0
0
36
202
2.37
3.54
2.8
1.9
89.0
99.2
pmol/l
0.61
24
99
77
631
3.64
3.44
50.9
14.8
14.2
13.6
%
2.66
77
623
17
67
2.93
3.38
1.5
1.6
—
—
—
0
0
36
207
2.29
3.31
3.6
2.2
—
—
—
0
0
9
20
4.91
3.21
1.1
1.3
—
—
—
0
0
10
29
3.78
3.15
2.5
2.8
24.7
24.4
mmol/l
—
10
29
14
52
3.03
3.07
13.6
4.4
0.0
0.1
%
—
5
17
41
260
2.13
2.87
2.0
1.8
—
—
—
0
0
8
18
4.79
2.87
1.1
1.3
—
—
—
0
0
5
6
8.75
2.78
1.2
2.0
—
—
nmol/l
—
0
0
59
434
2.21
2.77
7.1
4.2
—
53.6
—
0
10
12
44
3.02
2.67
1.3
1.3
—
—
—
0
0
10
33
3.30
2.62
1.4
19.0
—
—
—
0
0
6
11
5.78
2.59
7.8
3.4
47.5
54.6
%
—
6
11
78
672
3.25
2.52
46.2
13.2
40.2
40.7
%
0.32
59
531
11
40
3.01
2.48
2.3
1.2
—
—
—
0
0
8
22
3.90
2.43
1.9
1.2
—
—
—
0
0
15
66
2.55
2.41
7.7
17.3
-1.5
1.4
mmol/l
—
10
50
5
8
6.56
2.40
1.0
1.3
—
—
—
0
0
5
8
6.56
2.40
1.0
1.1
—
—
—
0
0
9
28
3.47
2.39
2.9
3.4
—
—
—
0
0
32
196
2.02
2.37
3.8
2.6
—
—
—
0
0
27
158
2.04
2.25
3.9
3.3
—
—
—
0
0
5
9
5.82
2.24
5.0
1.3
—
—
—
0
0
5
9
5.82
2.24
1.6
2.6
—
—
—
0
0
42
290
1.90
2.16
4.6
2.4
108.0
93.0
ug/l
0.22
42
274
16
287
0.45
2.15
2.7
2.5
—
—
—
0
0
14
63
2.47
2.15
1.3
1.1
—
—
—
0
0
9
32
3.02
2.07
11.0
14.3
91.3
92.5
%
—
9
32
8
27
3.16
1.99
2.3
2.0
3.1
1.5
%
—
8
27
6
16
3.95
1.97
1.2
2.4
—
—
—
0
0
5
11
4.76
1.97
4.2
2.1
44.4
34.8
umol/l
—
5
11
5
11
4.76
1.97
7.4
3.1
3.8
3.4
e9/l
—
5
11
5
11
4.76
1.97
3.4
1.6
—
—
—
0
0
20
111
2.05
1.89
1.4
1.6
—
—
—
0
0
28
177
1.87
1.83
3.8
3.9
1.8
11.0
mg/mmol
1.98
18
116
7
24
3.09
1.76
1.1
1.2
—
—
—
0
0
8
32
2.65
1.64
12.1
24.9
—
—
—
0
0
26
168
1.79
1.57
3.2
3.3
15.2
56.0
mg/l
1.99
16
112
7
27
2.73
1.55
2.7
1.9
—
—
—
0
0
5
15
3.47
1.54
3.4
2.7
5.2
7.5
mmol/l
—
5
15
45
343
1.67
1.49
5.6
4.8
0.0
0.0
estimate
—
9
62
5
16
3.25
1.46
3.4
2.6
1.8
1.4
mmol/l
—
5
16
45
345
1.66
1.44
4.2
3.5
0.0
0.0
estimate
—
8
63
45
346
1.65
1.42
4.6
3.5
0.0
0.0
estimate
—
9
65
6
23
2.73
1.39
3.0
1.5
—
—
—
0
0
5
17
3.06
1.38
2.0
1.1
5.8
162.1
e6/l
—
5
12
5
17
3.06
1.38
2.0
1.2
3.3
3.8
mmol/l
—
5
17
5
17
3.06
1.38
2.0
1.0
4.2
4.6
e6/l
—
5
11
8
34
2.49
1.33
12.3
13.6
0.6
0.7
%
—
8
34
8
35
2.42
1.31
12.3
12.5
1.6
2.0
%
—
8
35
5
18
2.89
1.30
2.4
4.8
—
—
—
0
0
5
18
2.89
1.30
2.0
1.3
368.2
397.7
mg/l
—
5
18
8
39
2.16
1.19
4.3
2.6
—
—
—
0
0
8
41
2.05
1.12
1.4
1.1
—
—
—
0
0
9
45
2.12
1.09
4.3
3.4
1.2
1.2
mmol/l
—
9
39
9
49
1.94
1.02
1.3
1.3
—
—
—
0
0
18
118
1.67
1.01
4.5
3.2
17.9
86.2
ng/l
0.73
12
76
56
476
1.53
1.01
6.1
3.8
—
—
—
0
0
8
45
1.86
0.87
2.1
2.8
3.5
4.1
e9/l
—
8
40
15
99
1.63
0.82
1.3
1.7
—
—
—
0
0
12
77
1.65
0.73
1.6
1.3
—
—
—
0
0
22
166
1.44
0.68
2.2
1.7
1.5
0.8
mg/l
0.83
17
128
55
488
1.37
0.63
3.9
3.0
—
—
—
0
0
13
89
1.55
0.62
2.8
2.4
0.6
0.6
ug/l
—
8
44
6
37
1.67
0.57
1.3
2.1
—
4802.7
—
0
12
12
86
1.46
0.47
1.4
1.6
—
—
—
0
0
0
16
0.00
0.41
0.0
1.7
—
—
—
0
0
25
209
1.28
0.40
1.4
1.6
—
—
—
0
0
0
19
0.00
0.39
0.0
1.1
—
—
—
0
0
11
81
1.41
0.38
1.1
1.2
—
—
—
0
0
79
762
1.62
0.37
28.3
10.6
—
—
—
0
0
7
54
1.32
0.31
5.0
2.9
—
—
—
0
0
5
38
1.34
0.23
1.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
6
47
1.30
0.21
7.5
3.3
—
—
—
0
0
0
13
0.00
0.21
0.0
1.1
—
1.5
—
0
6
56
534
1.15
0.18
4.8
4.0
15.0
14.8
pmol/l
0.22
51
494
61
627
0.90
0.11
6.2
5.1
38.1
39.4
mmol/mol
0.33
56
592
5
46
1.09
0.10
3.2
4.6
—
—
—
0
0
5
47
1.07
0.09
1.6
2.6
3.7
4.1
ug/l
—
5
40
15
136
1.13
0.09
1.5
1.3
—
43.8
iu/ml
—
0
44
20
189
1.08
0.05
5.5
3.7
0.0
0.0
estimate
—
7
59
15
158
0.94
0.02
4.7
3.0
—
—
—
0
0
20
197
1.02
0.00
4.0
3.3
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
111.3
—
0
6
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.6
—
12.5
—
0
5
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
2.2
—
56.3
—
0
5
7
72
0.97
0.00
2.1
1.9
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint D3_CVID_BCELL and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have D3_CVID_BCELL.

N-year risk Females Males
1 No data No data
5 No data No data
10 No data No data
15 No data No data
20 No data No data

Relationships between endpoints

Index endpoint: D3_CVID_BCELL – Common variable immunodeficiency with predominant abnormalities of B-cell numbers and function

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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