This is a non-core endpoint: only basic statistics are computed.
See these related core endpoints for full statistics:
Combined immunodeficiency, unspecified
D3_COMBIMMUDEFNAS
No definition available.
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. |
38 |
4. Check minimum number of eventsNone |
38 |
5. Include endpointsNone |
38 |
6. Filter based on genotype QC (FinnGen only) |
38 |
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
- D81
- Name in latin
- Deficientia immunalis mixta non specificata
Similar endpoints
↥List of similar endpoints to
Combined immunodeficiency, unspecified
based on the number of shared cases.
Similar with more cases:
- Combined immunodeficiencies
- 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
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 281 | 156 | 122 |
| Only index persons | 229 | 132 | 97 |
| 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 | 53.68 | 51.43 | 56.82 |
| Only index persons | 53.66 | 50.02 | 58.61 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 38 | 27 | 11 |
| Unadjusted period prevalence (%) | 0.01 | 0.01 | 0.00 |
| Median age at first event (years) | 51.31 | 50.12 | 54.24 |
-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
(3007164) IgA [Mass/volume] in Serum or Plasma
21
73
5.20
5.96
4.6
1.3
g/l
2.1
2.2
0.13
12
38
(3042936) Bacteria identified in Isolate by Culture
13
32
5.66
5.41
4.9
1.7
—
—
—
0
0
(3040853) Adenovirus DNA [Identifier] in Specimen by NAA with probe detection
7
5
16.66
4.77
4.1
1.2
—
—
—
0
0
(3042194) Human metapneumovirus RNA [Presence] in Specimen by NAA with probe detection
7
6
13.87
4.47
4.1
1.2
—
—
—
0
0
(42870588) Differential panel, method unspecified - Blood
22
96
4.07
4.33
15.3
4.5
—
—
—
0
0
(3016251) Hemoglobin.gastrointestinal [Presence] in Stool
7
10
8.27
3.53
2.7
2.7
—
—
—
0
0
(3019069) Monocytes/100 leukocytes in Blood
26
141
3.67
3.47
16.4
5.1
%
8.2
8.2
0.01
26
134
(3012095) Magnesium [Moles/volume] in Serum or Plasma
12
39
4.04
3.44
10.3
4.2
mmol/l
0.8
0.8
0.06
12
39
(3018010) Neutrophils/100 leukocytes in Blood
26
142
3.63
3.41
14.2
5.0
%
56.6
54.3
0.41
26
135
(3018418) pH of Serum or Plasma
18
78
3.48
3.41
8.6
4.0
ph
7.4
7.4
—
8
20
(3023368) Bacteria identified in Blood by Culture
17
71
3.52
3.41
7.9
2.8
—
—
—
0
0
(3000494) Fungus identified in Specimen by Culture
10
29
4.32
3.30
3.0
1.3
—
—
—
0
0
(3002030) Lymphocytes/100 leukocytes in Blood
26
146
3.47
3.19
15.4
5.0
%
29.5
31.8
0.45
26
137
(36305247) Microscopic observation [Identifier] in Isolate by Gram stain
6
8
8.63
3.18
2.3
1.4
—
—
—
0
0
(3022145) Colonoscopy Study observation
10
30
4.17
3.16
1.1
1.3
—
—
—
0
0
(3022096) Basophils/100 leukocytes in Blood
25
138
3.37
3.14
15.0
4.8
%
0.6
0.7
0.49
25
130
(3010421) pH of Blood
5
5
11.22
3.06
13.8
3.0
ph
7.4
7.5
—
5
5
(3027315) Oxygen [Partial pressure] in Blood
5
5
11.22
3.06
13.8
3.0
kpa
8.1
9.9
—
5
5
(3013290) Carbon dioxide [Partial pressure] in Blood
5
5
11.22
3.06
13.8
3.0
kpa
5.4
4.7
—
5
5
(3015399) Transferrin receptor.soluble [Mass/volume] in Serum or Plasma
15
63
3.28
2.92
3.6
2.3
mg/l
2.7
2.5
0.18
15
53
(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection
12
44
3.52
2.86
5.3
1.6
—
—
—
0
0
(3016293) Bicarbonate [Moles/volume] in Serum or Plasma
8
19
5.03
2.86
10.5
13.2
mmol/l
25.6
25.2
—
8
19
(40761536) Microorganisms panel - Urine sediment
7
15
5.45
2.74
9.9
3.0
—
—
—
0
0
(40760892) CBC W Ordered Manual Differential panel - Blood
15
66
3.10
2.67
9.8
5.3
—
—
—
0
0
(4035726)
8
21
4.53
2.63
1.9
1.4
—
—
—
0
0
(3048816) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Blood
8
22
4.32
2.53
7.0
5.2
mmol/l
1.2
1.2
—
8
22
(3001122) Ferritin [Mass/volume] in Serum or Plasma
23
133
2.85
2.46
3.5
2.8
ug/l
127.8
77.4
1.13
23
121
(43054903) Holo-transcobalamin II [Moles/volume] in Serum
20
108
2.80
2.43
2.3
2.0
pmol/l
107.2
97.3
0.25
14
47
(3016431) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma
22
131
2.61
2.13
17.7
7.0
mmol/l
1.2
1.2
0.33
15
113
(3004588) Protein electrophoresis panel - Serum or Plasma
6
15
4.53
2.13
9.5
1.2
—
—
—
0
0
(3018677) aPTT in Platelet poor plasma by Coagulation assay
10
39
3.12
2.12
1.9
3.9
s
30.0
30.3
—
10
39
(3035995) Alkaline phosphatase [Enzymatic activity/volume] in Serum or Plasma
31
227
2.98
2.08
18.2
7.1
u/l
90.7
78.4
0.67
31
211
(3019050) Tissue transglutaminase IgA Ab [Units/volume] in Serum
16
84
2.56
1.98
1.6
1.3
u/ml
2.5
2.7
—
6
18
(3013707) Erythrocyte sedimentation rate by Westergren method
31
229
2.91
1.88
8.7
3.7
mm/h
17.5
10.4
1.13
31
211
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
18
102
2.45
1.88
3.9
3.6
—
—
—
0
0
(3000492) Spirometry study
7
25
3.19
1.74
3.1
1.4
—
—
—
0
0
(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture
6
19
3.55
1.74
9.3
4.7
—
—
—
0
0
(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection
8
32
2.89
1.71
5.9
1.5
—
—
—
0
0
(3026782) Osmolality of Urine
11
51
2.63
1.70
4.5
2.7
mosm/kgh2o
492.9
576.7
0.71
11
43
(3019800) Troponin T.cardiac [Mass/volume] in Serum or Plasma
16
90
2.34
1.66
4.6
3.4
ng/l
43.7
18.6
—
8
54
(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection
8
33
2.79
1.65
5.9
1.5
—
—
—
0
0
(3051714) Fibrin D-dimer FEU [Mass/volume] in Platelet poor plasma
13
67
2.43
1.62
2.2
2.4
mg/l
1.3
1.2
—
8
52
(3007853) Bacteria identified in Skin by Aerobe culture
7
27
2.94
1.60
3.3
1.6
—
—
—
0
0
(3012516) Albumin [Mass/volume] in Urine
13
69
2.34
1.51
7.2
3.2
mg/l
10055.5
96.0
—
8
46
(3000620) Complement C3 [Mass/volume] in Serum or Plasma
5
16
3.43
1.49
3.2
1.5
g/l
1.1
1.1
—
5
16
(3017766) Complement C4 [Mass/volume] in Serum or Plasma
5
16
3.43
1.49
3.6
1.5
g/l
0.1
0.2
—
5
16
(3000850) Epithelial cells [#/volume] in Urine
11
55
2.41
1.45
4.5
2.7
e6/l
4.9
5.6
0.13
11
50
(43534045) MCM6 gene c.-13910C>T and -13915T>G [Identifier] in Blood or Tissue by Molecular genetics method Nominal
6
24
2.77
1.36
1.0
1.0
—
—
—
0
0
(3032080) INR in Blood by Coagulation assay
16
98
2.09
1.30
23.3
5.7
inr
1.1
1.2
—
8
31
(3021879) Hepatitis B virus core Ab [Presence] in Serum
6
25
2.65
1.30
1.7
1.5
—
—
—
0
0
(3017143) Hepatitis C virus Ab [Presence] in Serum
9
45
2.30
1.15
1.7
1.4
—
—
—
0
0
(3020779) Urea [Moles/volume] in Serum or Plasma
5
21
2.58
1.12
8.6
5.1
mmol/l
7.2
5.5
—
5
21
(40768804) Tissue Pathology biopsy report
17
115
1.87
1.00
1.9
1.9
—
—
—
0
0
(40758558) Short blood count panel - Blood
12
72
1.97
1.00
15.7
6.3
—
—
—
0
0
(3013826) Glucose [Moles/volume] in Serum or Plasma
24
183
1.85
0.95
12.3
4.3
mmol/l
6.4
6.5
0.06
24
160
(3033658) Prothrombin time (PT) actual/Normal
12
74
1.91
0.92
5.3
5.0
%
97.7
94.3
0.26
12
74
(3013512) EKG study
12
75
1.88
0.88
5.1
3.7
—
—
—
0
0
(3030467) Casts [#/volume] in Urine by Automated count
12
76
1.85
0.84
4.8
4.0
e6/l
0.1
0.3
0.58
12
55
(3019284) Hepatitis B virus surface Ag [Presence] in Serum
10
61
1.87
0.78
1.9
1.7
—
—
—
0
0
(36304419) Bacteria [Presence] in Urine
12
78
1.79
0.77
4.8
3.9
—
—
—
0
0
(3021447) Carbon dioxide [Partial pressure] in Venous blood
5
26
2.06
0.73
8.8
6.8
kpa
6.1
5.9
—
5
26
(3012544) pH of Venous blood
5
26
2.06
0.73
8.8
6.7
—
—
—
0
0
(40768797) Stomach Pathology biopsy report
7
43
1.77
0.71
1.7
1.3
—
—
—
0
0
(3020682) Albumin/Creatinine [Ratio] in Urine
11
72
1.74
0.68
5.0
3.6
mg/mmol
23.3
7.4
—
6
44
(3044889) 12 lead EKG panel
24
195
1.63
0.66
5.2
3.2
—
—
—
0
0
(3014576) Chloride [Moles/volume] in Serum or Plasma
6
34
1.90
0.62
6.0
8.6
mmol/l
105.7
103.7
—
6
34
(46235355) HIV 1 and 2 tests - Meaningful Use set
11
74
1.68
0.62
1.7
1.9
—
—
—
0
0
(3041096) Erythrocytes [Presence] in Urine by Automated
12
83
1.65
0.61
8.0
3.1
—
—
—
0
0
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
27
229
1.62
0.59
5.3
3.6
—
—
—
0
0
(3029937) Albumin [Presence] in Urine by Test strip
12
84
1.63
0.58
8.4
3.2
estimate
0.0
0.0
—
7
19
(3015736) pH of Urine
16
122
1.54
0.55
2.9
3.2
—
—
—
0
0
(3026008) Bacteria identified in Urine by Culture
13
95
1.56
0.53
4.2
2.7
—
—
—
0
0
(3002582) Erythrocytes [#/volume] in Urine
12
86
1.58
0.53
4.7
3.8
e6/l
30.8
12.9
0.33
12
62
(3035350) Ketones [Presence] in Urine by Test strip
19
154
1.47
0.47
6.2
3.4
estimate
0.0
0.0
—
7
19
(3037467) Urinalysis macro (dipstick) panel - Urine
24
205
1.46
0.44
7.6
4.0
—
—
—
0
0
(3029187) Natriuretic peptide.B prohormone N-Terminal [Mass/volume] in Serum or Plasma
9
65
1.50
0.43
3.9
3.1
ng/l
4103.3
1034.8
—
9
49
(36660697) Celiac disease serology panel - Serum
5
33
1.59
0.43
1.6
1.1
—
—
—
0
0
(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma
5
35
1.49
0.41
9.8
5.3
—
—
—
0
0
(3001019) Free T4 and TSH panel - Serum or Plasma
0
18
0.00
0.41
0.0
1.7
—
—
—
0
0
(3021601) Nitrite [Presence] in Urine by Test strip
18
151
1.36
0.34
7.4
5.0
estimate
0.0
0.0
—
7
20
(40761511) CBC panel - Blood by Automated count
31
326
0.73
0.33
38.0
10.1
—
—
—
0
0
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
15
123
1.36
0.32
7.5
3.2
—
—
—
0
0
(3009261) Glucose [Presence] in Urine by Test strip
18
153
1.34
0.30
6.6
3.4
estimate
0.0
0.0
—
7
19
(3011397) Hemoglobin [Presence] in Urine by Test strip
6
79
0.71
0.27
3.7
3.2
—
—
—
0
0
(43054914) Glucose tolerance 2 hours panel - Serum or Plasma
5
37
1.40
0.25
3.0
1.8
—
—
—
0
0
(3002256) Pathology report gross observation
5
38
1.36
0.24
1.2
1.2
—
—
—
0
0
(3030981) Hyaline casts [#/volume] in Urine by Automated count
0
11
0.00
0.22
0.0
1.9
—
0.0
—
0
11
(3004529) Oxygen [Partial pressure] adjusted to patient's actual temperature in Venous blood
0
11
0.00
0.22
0.0
5.5
—
33.5
—
0
11
(3008898) HLA-B27 [Presence]
0
10
0.00
0.22
0.0
1.1
—
—
—
0
0
(3050380) Cytology report of Cervical or vaginal smear or scraping Cyto stain
0
10
0.00
0.22
0.0
1.3
—
—
—
0
0
(46237023) Hepatitis B virus core and surface Ab and surface Ag panel - Serum
0
10
0.00
0.22
0.0
1.2
—
—
—
0
0
(40768793) Breast Pathology biopsy report
0
12
0.00
0.21
0.0
1.0
—
—
—
0
0
(3023421) Hepatitis B virus surface Ab [Units/volume] in Serum
0
12
0.00
0.21
0.0
1.8
—
394.3
—
0
7
(3014218) Bicarbonate [Moles/volume] standard in Arterial blood
0
13
0.00
0.21
0.0
9.9
—
24.8
—
0
13
(36033641) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Rapid immunoassay
0
14
0.00
0.20
0.0
2.1
—
—
—
0
0
(3002385) Erythrocyte distribution width [Ratio]
28
261
1.28
0.19
46.9
14.6
%
14.0
13.4
1.37
28
256
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
5
68
0.70
0.18
2.4
2.0
—
—
—
0
0
(3009542) Hematocrit [Volume Fraction] of Blood
30
283
1.28
0.16
32.7
13.1
%
39.6
39.5
0.04
20
213
(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection
5
43
1.19
0.10
2.2
2.2
—
—
—
0
0
(3019832) Treponema pallidum Ab [Presence] in Serum
5
44
1.16
0.10
1.6
1.8
—
—
—
0
0
(3006923) Alanine aminotransferase [Enzymatic activity/volume] in Serum or Plasma
33
320
1.24
0.09
25.0
9.6
u/l
30.3
25.0
0.91
33
308
(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture
6
70
0.83
0.08
1.0
1.5
—
—
—
0
0
(3044640) Blood type and Crossmatch panel - Blood
8
90
0.86
0.07
4.4
2.1
—
—
—
0
0
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
15
148
1.02
0.00
7.3
3.6
—
—
—
0
0
(3049506) Microalbumin [Mass/time] in Urine collected for unspecified duration
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture
0
6
0.00
0.00
0.0
1.8
—
—
—
0
0
(3038177) Helicobacter pylori Ab [Presence] in Serum
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
(1761482) Bacteria [#/volume] in Urine by Culture
0
5
0.00
0.00
0.0
4.0
—
—
—
0
0
(3036086) Jo-1 extractable nuclear Ab [Units/volume] in Serum by Immunoassay
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
(40762119) U1 small nuclear ribonucleoprotein 70kD Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3003694) ABO and Rh group [Type] in Blood
9
89
1.01
0.00
1.8
1.5
—
—
—
0
0
(21492711) Cytomegalovirus IgG Ab avidity [Presence] in Serum or Plasma by Immunoassay
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
(3047007) Chlamydophila sp Ab [Presence] in Serum
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(4268621)
0
8
0.00
0.00
0.0
2.8
—
—
—
0
0
(3020629) Protein S Free Ag actual/normal in Platelet poor plasma by Immunoassay
0
9
0.00
0.00
0.0
1.2
—
91.0
—
0
9
(3018387) Mycoplasma pneumoniae IgG Ab [Units/volume] in Serum
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(1761868) Lipid panel - Serum or Plasma
9
95
0.93
0.00
2.6
2.4
—
—
—
0
0
(3024666) Lithium, Blood [Moles/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
7.2
—
0.7
—
0
5
(3008037) Lactate [Moles/volume] in Venous blood
0
5
0.00
0.00
0.0
2.4
—
1.3
—
0
5
(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep
7
73
0.95
0.00
1.7
1.4
—
—
—
0
0
(3002148) Methylenedioxymethamphetamine [Presence] in Urine by Screen method
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3038515) Glucose [Moles/volume] in Venous blood
0
5
0.00
0.00
0.0
2.4
—
7.4
—
0
5
(3023511) Choriogonadotropin [Units/volume] in Urine
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(1175715) Chlamydophila pneumoniae IgM Ab [Presence] in Serum by Immunoassay
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
(44816752) ERBB2 gene copy number/nucleus in Tissue by FISH
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint D3_COMBIMMUDEFNAS and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have D3_COMBIMMUDEFNAS.| 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_COMBIMMUDEFNAS – Combined immunodeficiency, 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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