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Immunodeficiency associated with other specified major defects, or unspecified

D3_IMMUDEFMAJORDEFNAS

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:

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

25

4. Check minimum number of events

None

25

5. Include endpoints

None

25

6. Filter based on genotype QC (FinnGen only)

25

Control definitions (FinnGen only)

Control exclude
D3_IMMUNEMECHANISM

Extra metadata

Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2

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 163 79 84
Only index persons 132 66 66
Unadjusted period prevalence (%)
Whole population 0.00 0.00 0.00
Only index persons 0.00 0.00 0.00
Median age at first event (years)
Whole population - 56.48 53.37
Only index persons 54.48 56.74 52.21

-FinnGen-

Key figures

All Female Male
Number of individuals 25 12 13
Unadjusted period prevalence (%) 0.00 0.00 0.01
Median age at first event (years) 55.95 58.30 53.79

-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

Not a core endpoint, no data to show.

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.

No data available

LabWAS

OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
unit
cases
controls
-log10(p)
N cases
N controls
(3005719) IgG [Mass/volume] in Serum or Plasma
11
12
15.58
9.73
20.2
2.1
g/l
9.5
9.9
0.09
11
12
(4062490)
5
0
+∞
5.38
2.0
0.0
—
—
—
0
0
(3040853) Adenovirus DNA [Identifier] in Specimen by NAA with probe detection
7
6
15.45
4.58
4.4
1.0
—
—
—
0
0
(3042194) Human metapneumovirus RNA [Presence] in Specimen by NAA with probe detection
7
6
15.45
4.58
4.4
1.0
—
—
—
0
0
(3035350) Ketones [Presence] in Urine by Test strip
19
94
5.22
3.39
5.7
4.2
estimate
0.0
0.0
—
5
14
(3013742) Prealbumin [Mass/volume] in Serum or Plasma
8
16
6.80
3.38
4.3
3.3
g/l
0.2
0.2
—
8
16
(40758558) Short blood count panel - Blood
13
50
4.33
3.14
10.8
8.8
—
—
—
0
0
(40765161) Human bocavirus DNA [Presence] in Specimen by NAA with probe detection
5
5
12.00
3.11
5.8
1.0
—
—
—
0
0
(4035726)
8
18
6.00
3.10
1.8
1.2
—
—
—
0
0
(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection
9
24
5.25
3.04
6.9
1.5
—
—
—
0
0
(3021601) Nitrite [Presence] in Urine by Test strip
18
93
4.32
2.98
7.5
6.3
estimate
0.0
0.0
—
5
13
(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection
8
19
5.66
2.98
6.0
1.6
—
—
—
0
0
(3009261) Glucose [Presence] in Urine by Test strip
18
94
4.24
2.94
6.0
4.3
estimate
0.0
0.0
—
5
14
(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection
8
20
5.36
2.86
6.1
1.5
—
—
—
0
0
(3014162) Mycobacterium tuberculosis DNA [Presence] in Specimen by NAA with probe detection
5
7
8.54
2.67
3.6
2.3
—
—
—
0
0
(3020779) Urea [Moles/volume] in Serum or Plasma
7
17
5.28
2.57
9.1
5.2
mmol/l
14.3
6.3
—
7
17
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
15
73
3.64
2.46
5.9
2.8
—
—
—
0
0
(3015736) pH of Urine
15
76
3.43
2.26
4.7
3.8
—
—
—
0
0
(3007853) Bacteria identified in Skin by Aerobe culture
7
20
4.43
2.25
3.3
1.6
—
—
—
0
0
(42870588) Differential panel, method unspecified - Blood
14
69
3.34
2.19
41.2
7.1
—
—
—
0
0
(43054903) Holo-transcobalamin II [Moles/volume] in Serum
14
70
3.27
2.12
2.6
2.0
pmol/l
74.2
97.2
—
7
31
(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture
5
11
5.37
2.04
10.0
3.7
—
—
—
0
0
(3019284) Hepatitis B virus surface Ag [Presence] in Serum
7
23
3.81
1.97
1.6
1.3
—
—
—
0
0
(40761536) Microorganisms panel - Urine sediment
5
13
4.52
1.81
9.0
4.5
—
—
—
0
0
(3025941) Bacteria identified in Stool by Culture
5
14
4.18
1.70
2.0
1.2
—
—
—
0
0
(40760892) CBC W Ordered Manual Differential panel - Blood
9
39
3.03
1.65
22.6
3.7
—
—
—
0
0
(3000850) Epithelial cells [#/volume] in Urine
9
41
2.85
1.58
5.0
2.2
e6/l
1.6
6.0
—
9
35
(3011397) Hemoglobin [Presence] in Urine by Test strip
9
42
2.77
1.55
5.8
3.2
—
—
—
0
0
(3017143) Hepatitis C virus Ab [Presence] in Serum
6
22
3.25
1.54
1.2
1.3
—
—
—
0
0
(36304419) Bacteria [Presence] in Urine
11
56
2.72
1.51
6.9
2.8
—
—
—
0
0
(3008486) Thyroxine (T4) free [Moles/volume] in Serum or Plasma
19
135
2.69
1.44
3.7
4.1
pmol/l
15.1
15.2
0.07
19
119
(3021347) Calcium.ionized [Moles/volume] in Serum or Plasma
15
92
2.58
1.40
28.8
6.9
mmol/l
1.2
1.2
0.49
15
83
(3051552) Clostridioides difficile toxin genes [Presence] in Stool by NAA with probe detection
5
18
3.20
1.35
3.4
1.3
—
—
—
0
0
(3030467) Casts [#/volume] in Urine by Automated count
11
59
2.54
1.33
6.9
2.9
e6/l
0.0
0.1
1.29
11
41
(3000991) Gas panel - Venous blood
6
25
2.83
1.33
10.3
3.4
—
—
—
0
0
(3000494) Fungus identified in Specimen by Culture
5
19
3.02
1.28
3.8
1.5
—
—
—
0
0
(3022250) Lactate dehydrogenase [Enzymatic activity/volume] in Serum or Plasma by Lactate to pyruvate reaction
7
30
2.84
1.24
10.4
3.2
u/l
295.9
250.1
—
7
30
(3021960) Folate [Moles/volume] in Serum or Plasma
9
45
2.55
1.22
2.0
1.5
nmol/l
19.4
18.9
—
9
37
(3033658) Prothrombin time (PT) actual/Normal
9
46
2.48
1.21
11.1
3.6
%
90.6
89.5
—
9
46
(3009508) Creatinine [Moles/volume] in Urine
11
62
2.38
1.18
3.6
3.3
mmol/l
5.8
8.2
1.61
11
54
(3026782) Osmolality of Urine
9
48
2.36
1.17
4.7
2.9
mosm/kgh2o
472.2
561.1
—
9
41
(3029937) Albumin [Presence] in Urine by Test strip
10
54
2.42
1.17
7.4
3.8
estimate
0.0
0.0
—
5
12
(3042936) Bacteria identified in Isolate by Culture
6
28
2.49
0.99
4.2
1.4
—
—
—
0
0
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
12
75
2.15
0.98
6.6
4.3
—
—
—
0
0
(46235355) HIV 1 and 2 tests - Meaningful Use set
6
30
2.31
0.94
1.7
1.7
—
—
—
0
0
(3048689) Calprotectin [Mass/mass] in Stool
6
30
2.31
0.94
1.8
3.4
ug/g
77.3
112.9
—
6
24
(3037467) Urinalysis macro (dipstick) panel - Urine
18
136
2.15
0.86
7.9
4.2
—
—
—
0
0
(3041096) Erythrocytes [Presence] in Urine by Automated
9
57
1.90
0.83
6.0
4.5
—
—
—
0
0
(3037522) Nuclear Ab [Titer] in Serum
5
24
2.34
0.80
2.2
1.5
—
354.3
—
0
7
(40768797) Stomach Pathology biopsy report
5
25
2.24
0.77
1.2
1.2
—
—
—
0
0
(3002582) Erythrocytes [#/volume] in Urine
11
72
1.94
0.75
7.2
2.9
e6/l
8.5
11.9
0.55
11
53
(3002032) Base excess in Venous blood by calculation
5
26
2.15
0.75
61.2
8.1
mmol/l
1.8
1.7
—
5
19
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
15
110
1.91
0.73
4.4
2.9
—
—
—
0
0
(3012544) pH of Venous blood
5
27
2.06
0.73
61.2
7.8
—
—
—
0
0
(3021589) Normoblasts [#/volume] in Blood
13
92
1.86
0.69
59.5
10.8
e9/l
0.0
0.0
0.65
13
78
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
12
84
1.82
0.65
6.3
3.6
—
—
—
0
0
(3029187) Natriuretic peptide.B prohormone N-Terminal [Mass/volume] in Serum or Plasma
9
60
1.78
0.65
2.2
3.4
ng/l
2528.8
965.3
—
9
52
(3023368) Bacteria identified in Blood by Culture
9
60
1.78
0.65
33.4
3.2
—
—
—
0
0
(43534045) MCM6 gene c.-13910C>T and -13915T>G [Identifier] in Blood or Tissue by Molecular genetics method Nominal
0
20
0.00
0.63
0.0
1.0
—
—
—
0
0
(3004410) Hemoglobin A1c/Hemoglobin.total in Blood
20
169
1.91
0.58
5.8
5.6
mmol/mol
38.7
40.6
0.52
20
160
(3025839) Triglyceride [Moles/volume] in Serum or Plasma
7
44
1.82
0.56
1.6
1.8
mmol/l
1.8
1.2
—
7
36
(3032080) INR in Blood by Coagulation assay
11
79
1.70
0.52
18.6
7.8
inr
1.3
1.3
—
6
31
(3019150) Specific gravity of Urine by Refractometry
7
49
1.59
0.51
4.4
4.0
—
1.0
—
0
7
(40768804) Tissue Pathology biopsy report
9
65
1.60
0.46
1.9
1.6
—
—
—
0
0
(3009201) Thyrotropin [Units/volume] in Serum or Plasma
20
172
1.81
0.44
4.8
4.7
mu/l
1.9
1.9
0.11
20
154
(3026910) Gamma glutamyl transferase [Enzymatic activity/volume] in Serum or Plasma
15
121
1.60
0.43
6.7
2.9
u/l
57.3
64.8
0.15
15
111
(3035995) Alkaline phosphatase [Enzymatic activity/volume] in Serum or Plasma
18
157
1.52
0.40
21.4
7.0
u/l
105.7
91.6
0.49
18
146
(3013603) Prostate specific Ag [Mass/volume] in Serum or Plasma
7
54
1.41
0.34
3.0
4.3
ug/l
1.9
2.0
—
7
47
(3044640) Blood type and Crossmatch panel - Blood
7
55
1.38
0.34
4.3
2.2
—
—
—
0
0
(1761868) Lipid panel - Serum or Plasma
7
55
1.38
0.34
1.7
3.1
—
—
—
0
0
(3026008) Bacteria identified in Urine by Culture
8
64
1.37
0.32
3.6
3.4
—
—
—
0
0
(40771025) 25-Hydroxyvitamin D3+25-Hydroxyvitamin D2 [Moles/volume] in Serum or Plasma
11
88
1.45
0.29
6.0
2.7
nmol/l
85.6
69.5
1.03
11
80
(3044889) 12 lead EKG panel
16
138
1.44
0.28
7.7
3.2
—
—
—
0
0
(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture
5
40
1.31
0.24
1.2
1.4
—
—
—
0
0
(3051714) Fibrin D-dimer FEU [Mass/volume] in Platelet poor plasma
5
40
1.31
0.24
7.2
1.8
mg/l
1.2
0.9
—
5
33
(3013512) EKG study
7
58
1.29
0.21
9.0
3.8
—
—
—
0
0
(3018251) Fasting glucose [Moles/volume] in Serum or Plasma
17
174
0.93
0.08
5.8
4.9
mmol/l
6.0
6.0
0.04
17
161
(1761482) Bacteria [#/volume] in Urine by Culture
0
9
0.00
0.00
0.0
5.3
—
—
—
0
0
(3006418) Campylobacter sp identified in Tissue by Organism specific culture
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
(1175715) Chlamydophila pneumoniae IgM Ab [Presence] in Serum by Immunoassay
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3014765) Yersinia sp identified in Stool by Organism specific culture
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
(3001308) Cholesterol in LDL [Moles/volume] in Serum or Plasma
18
182
0.96
0.00
5.1
5.3
mmol/l
2.2
2.7
1.45
18
166
(44816559) Phosphatidylethanol [Mass/volume] in Blood
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3006093) Chlamydia trachomatis DNA [Presence] in Specimen by NAA with probe detection
0
6
0.00
0.00
0.0
2.0
—
—
—
0
0
(3003694) ABO and Rh group [Type] in Blood
5
48
1.05
0.00
1.2
1.4
—
—
—
0
0
(1002224) Polysomnography panel
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3044491) Cholesterol non HDL [Mass/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3002109) Cholesterol in LDL/Cholesterol in HDL [Mass Ratio] in Serum or Plasma
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3037551) Cancer Ag 125 [Units/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.2
—
14.3
—
0
5
(3015916) Alpha-1-Fetoprotein [Units/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.0
—
2.7
—
0
5
(42529406) Shigella sp [Presence] in Stool by Culture
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
(3028707) Methadone [Presence] in Urine by Screen method
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
(3004716) Salmonella sp identified in Stool by Organism specific culture
0
8
0.00
0.00
0.0
1.5
—
—
—
0
0
(3038515) Glucose [Moles/volume] in Venous blood
0
5
0.00
0.00
0.0
3.6
—
5.8
—
0
5
(36033641) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Rapid immunoassay
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(36032419) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Immunoassay
0
6
0.00
0.00
0.0
2.5
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint D3_IMMUDEFMAJORDEFNAS and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have D3_IMMUDEFMAJORDEFNAS.

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_IMMUDEFMAJORDEFNAS – Immunodeficiency associated with other specified major defects, or unspecified

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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