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Other combined immunodeficiencies

D3_OCID

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 D81.8
  • Cause of death: ICD-10 D81.8

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

49

4. Check minimum number of events

None

49

5. Include endpoints

None

49

6. Filter based on genotype QC (FinnGen only)

49

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
Aliae deficientiae immunales mixtae specificatae

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 294 155 138
Only index persons 247 137 110
Unadjusted period prevalence (%)
Whole population 0.00 0.00 0.00
Only index persons 0.00 0.01 0.00
Median age at first event (years)
Whole population 57.07 57.06 57.39
Only index persons 56.21 56.30 56.10

-FinnGen-

Key figures

All Female Male
Number of individuals 49 28 21
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 54.81 54.56 55.14

-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
(3013924) Clostridium tetani IgG Ab [Units/volume] in Serum
5
0
+∞
5.29
2.2
0.0
—
—
—
0
0
(3042936) Bacteria identified in Isolate by Culture
13
34
4.84
4.90
4.4
2.4
—
—
—
0
0
(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection
13
35
4.69
4.73
3.0
1.5
—
—
—
0
0
(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection
12
34
4.35
4.06
3.0
1.6
—
—
—
0
0
(3020779) Urea [Moles/volume] in Serum or Plasma
12
36
4.09
3.76
7.3
5.1
mmol/l
10.6
8.5
0.37
12
36
(3023368) Bacteria identified in Blood by Culture
21
96
3.08
3.47
12.0
3.3
—
—
—
0
0
(3022250) Lactate dehydrogenase [Enzymatic activity/volume] in Serum or Plasma by Lactate to pyruvate reaction
12
39
3.75
3.35
4.4
6.1
u/l
202.7
246.1
1.90
12
39
(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection
14
51
3.44
3.32
3.6
1.8
—
—
—
0
0
(3007853) Bacteria identified in Skin by Aerobe culture
11
34
3.88
3.29
3.1
1.4
—
—
—
0
0
(3016431) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma
32
190
2.97
3.24
10.5
6.0
mmol/l
1.2
1.2
0.57
27
159
(3014162) Mycobacterium tuberculosis DNA [Presence] in Specimen by NAA with probe detection
6
8
8.34
3.15
4.2
2.3
—
—
—
0
0
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
29
173
2.66
2.77
4.3
4.0
—
—
—
0
0
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
17
78
2.81
2.70
1.5
1.9
—
—
—
0
0
(42870588) Differential panel, method unspecified - Blood
23
124
2.61
2.67
19.7
5.9
—
—
—
0
0
(3011960) Natriuretic peptide B [Mass/volume] in Serum or Plasma
9
27
3.84
2.54
3.4
1.7
ng/l
102.1
113.0
—
9
22
(586526) SARS-CoV-2 (COVID-19) RNA [Presence] in Nasopharynx by NAA with probe detection
7
17
4.61
2.46
1.3
1.2
—
—
—
0
0
(3044640) Blood type and Crossmatch panel - Blood
21
117
2.39
2.20
2.0
1.9
—
—
—
0
0
(3000494) Fungus identified in Specimen by Culture
11
44
2.93
2.19
2.3
1.5
—
—
—
0
0
(3007844) Epstein Barr virus capsid IgM Ab [Units/volume] in Serum by Immunoassay
5
10
5.42
2.12
1.6
1.1
—
—
—
0
0
(3042194) Human metapneumovirus RNA [Presence] in Specimen by NAA with probe detection
5
10
5.42
2.12
2.8
1.8
—
—
—
0
0
(3040853) Adenovirus DNA [Identifier] in Specimen by NAA with probe detection
5
10
5.42
2.12
2.8
1.8
—
—
—
0
0
(36031861) Influenza virus A and B and SARS-CoV-2 (COVID-19) and Respiratory syncytial virus RNA panel - Respiratory system specimen by NAA with probe detection
6
15
4.40
2.11
2.3
1.5
—
—
—
0
0
(43054903) Holo-transcobalamin II [Moles/volume] in Serum
23
136
2.30
2.09
2.6
1.8
pmol/l
80.0
98.0
1.09
14
61
(3033658) Prothrombin time (PT) actual/Normal
18
96
2.38
2.05
4.2
2.8
%
91.3
85.8
0.46
18
96
(3002434) Lupus erythematosus deoxynucleoproteins IgG Ab [Units/volume] in Serum by Immunoassay
6
16
4.12
2.00
2.7
2.0
—
—
—
0
0
(40758558) Short blood count panel - Blood
18
98
2.32
1.95
11.9
8.2
—
—
—
0
0
(40768797) Stomach Pathology biopsy report
11
47
2.73
1.94
1.3
1.2
—
—
—
0
0
(3051552) Clostridioides difficile toxin genes [Presence] in Stool by NAA with probe detection
7
24
3.23
1.80
2.1
1.4
—
—
—
0
0
(3015635) Cytomegalovirus IgM Ab [Units/volume] in Serum or Plasma
5
13
4.15
1.76
1.2
1.1
—
—
—
0
0
(3018010) Neutrophils/100 leukocytes in Blood
27
185
2.02
1.57
19.1
5.6
%
59.0
55.5
0.74
27
175
(3037467) Urinalysis macro (dipstick) panel - Urine
35
264
2.14
1.56
8.2
4.7
—
—
—
0
0
(3048929) Epstein Barr virus Ab [Presence] in Serum
5
15
3.58
1.56
1.8
1.1
—
—
—
0
0
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
23
150
2.01
1.53
7.3
2.7
—
—
—
0
0
(3013139) Helicobacter pylori Ag [Presence] in Stool
5
16
3.35
1.47
1.0
1.2
—
—
—
0
0
(3006504) Eosinophils/100 leukocytes in Blood
26
179
1.96
1.47
21.1
5.7
%
3.3
2.8
0.64
26
167
(3019069) Monocytes/100 leukocytes in Blood
26
180
1.95
1.43
22.0
5.9
%
9.1
8.5
0.48
26
170
(3022096) Basophils/100 leukocytes in Blood
25
172
1.93
1.39
21.3
5.7
%
0.7
0.7
0.01
25
160
(3021960) Folate [Moles/volume] in Serum or Plasma
14
80
2.05
1.30
1.7
1.4
nmol/l
21.7
23.1
0.15
14
68
(3025941) Bacteria identified in Stool by Culture
5
19
2.81
1.24
2.2
1.1
—
—
—
0
0
(3012544) pH of Venous blood
8
40
2.19
1.18
2.3
6.3
—
—
—
0
0
(36304419) Bacteria [Presence] in Urine
17
111
1.81
1.06
4.5
2.4
—
—
—
0
0
(3015736) pH of Urine
21
150
1.70
0.96
4.0
3.8
—
—
—
0
0
(3000991) Gas panel - Venous blood
8
42
2.08
0.94
2.0
4.3
—
—
—
0
0
(3026008) Bacteria identified in Urine by Culture
18
124
1.71
0.93
3.6
3.1
—
—
—
0
0
(46235355) HIV 1 and 2 tests - Meaningful Use set
11
65
1.89
0.91
1.5
2.0
—
—
—
0
0
(3003396) Base excess in Arterial blood by calculation
8
44
1.97
0.91
3.4
4.8
mmol/l
1.7
1.3
—
8
35
(3032080) INR in Blood by Coagulation assay
20
143
1.67
0.90
10.6
7.3
inr
1.2
1.3
—
7
50
(3009542) Hematocrit [Volume Fraction] of Blood
40
345
1.87
0.87
25.8
14.0
%
39.1
39.8
0.30
27
245
(4035726)
6
32
1.99
0.85
3.3
1.2
—
—
—
0
0
(3022948) Iron [Moles/volume] in Serum or Plasma
10
59
1.87
0.83
3.1
1.8
umol/l
13.2
14.7
—
10
53
(43534045) MCM6 gene c.-13910C>T and -13915T>G [Identifier] in Blood or Tissue by Molecular genetics method Nominal
0
24
0.00
0.81
0.0
1.0
—
—
—
0
0
(3004789) Transferrin [Mass/volume] in Serum or Plasma
9
54
1.81
0.80
3.2
1.7
g/l
2.0
2.5
—
9
48
(3004716) Salmonella sp identified in Stool by Organism specific culture
5
23
2.30
0.78
1.4
1.3
—
—
—
0
0
(3033319) Streptococcus pyogenes Ag [Presence] in Throat
7
38
1.98
0.77
1.3
1.4
—
—
—
0
0
(3030981) Hyaline casts [#/volume] in Urine by Automated count
5
24
2.20
0.77
6.4
2.4
e6/l
0.4
0.1
—
5
24
(40768804) Tissue Pathology biopsy report
19
139
1.60
0.76
2.5
2.0
—
—
—
0
0
(3031040) Bacteria [#/volume] in Urine by Automated count
32
265
1.60
0.76
6.1
4.5
—
22.4
—
0
5
(3002256) Pathology report gross observation
7
40
1.87
0.75
1.6
1.2
—
—
—
0
0
(3021447) Carbon dioxide [Partial pressure] in Venous blood
7
42
1.78
0.72
2.3
6.1
kpa
5.6
5.7
—
7
42
(3017143) Hepatitis C virus Ab [Presence] in Serum
8
49
1.75
0.66
1.9
1.7
—
—
—
0
0
(3022217) INR in Platelet poor plasma by Coagulation assay
8
49
1.75
0.66
29.6
29.5
—
1.7
—
0
6
(3019225) pH of Specimen
5
29
1.80
0.65
8.8
2.8
—
—
—
0
0
(3029187) Natriuretic peptide.B prohormone N-Terminal [Mass/volume] in Serum or Plasma
16
116
1.56
0.65
2.8
4.1
ng/l
2602.5
1602.5
0.18
11
100
(3011397) Hemoglobin [Presence] in Urine by Test strip
13
90
1.60
0.63
4.5
3.7
—
—
—
0
0
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
27
221
1.49
0.63
4.0
2.8
—
—
—
0
0
(3009508) Creatinine [Moles/volume] in Urine
17
126
1.53
0.63
4.3
2.7
mmol/l
6.7
8.1
0.62
17
110
(40763571) Iron/Transferrin [Ratio] in Serum or Plasma
8
53
1.61
0.62
4.0
1.6
%
24.6
26.6
—
8
42
(3016293) Bicarbonate [Moles/volume] in Serum or Plasma
6
34
1.87
0.61
3.3
8.7
mmol/l
26.3
25.3
—
6
34
(3024354) Oxygen [Partial pressure] in Venous blood
6
39
1.61
0.55
1.3
6.5
kpa
4.5
4.2
—
6
39
(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture
5
83
0.56
0.51
1.4
1.5
—
—
—
0
0
(3022621) pH of Urine by Test strip
5
31
1.68
0.44
1.2
2.7
—
—
—
0
0
(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture
5
31
1.68
0.44
7.4
5.0
—
—
—
0
0
(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection
5
32
1.62
0.44
2.2
1.7
—
—
—
0
0
(3001019) Free T4 and TSH panel - Serum or Plasma
0
15
0.00
0.42
0.0
1.7
—
—
—
0
0
(3050129) First trimester maternal screen panel - Serum or Plasma
0
17
0.00
0.41
0.0
1.4
—
—
—
0
0
(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma
6
44
1.41
0.36
12.3
8.9
—
—
—
0
0
(3041096) Erythrocytes [Presence] in Urine by Automated
13
103
1.36
0.32
7.4
4.3
—
—
—
0
0
(3013512) EKG study
9
119
0.70
0.32
4.1
3.9
—
—
—
0
0
(40760892) CBC W Ordered Manual Differential panel - Blood
11
85
1.38
0.31
16.5
5.0
—
—
—
0
0
(3044889) 12 lead EKG panel
30
272
1.27
0.27
6.1
3.8
—
—
—
0
0
(46235831) Pregnancy associated plasma protein A [Multiple of the median] adjusted in Serum or Plasma
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
(40763531) Fetal Nuchal fold [Multiple of the median] Thickness adjusted for maternal weight
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
(3005033) Fetal Nuchal fold Thickness US
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
(3008714) Choriogonadotropin [Multiple of the median] adjusted in Serum or Plasma
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
(3047352) Trisomy 18 risk [Likelihood] in Fetus
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
(3043238) Trisomy 21 risk [Likelihood] in Fetus
0
11
0.00
0.21
0.0
1.6
—
—
—
0
0
(3049207) Fetal Trisomy 21 risk [Likelihood] Based on maternal age
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
(1761482) Bacteria [#/volume] in Urine by Culture
0
11
0.00
0.21
0.0
6.1
—
—
—
0
0
(40768793) Breast Pathology biopsy report
0
10
0.00
0.21
0.0
1.5
—
—
—
0
0
(3020321) Streptococcus agalactiae [Presence] in Vaginal fluid by Organism specific culture
0
10
0.00
0.21
0.0
1.4
—
—
—
0
0
(3003191) Choriogonadotropin (pregnancy test) [Presence] in Serum or Plasma
0
10
0.00
0.21
0.0
2.0
—
—
—
0
0
(3009041) Cardiolipin IgG Ab [Units/volume] in Serum by Immunoassay
0
10
0.00
0.21
0.0
1.0
—
3.0
—
0
5
(3019145) Choriogonadotropin.beta subunit free [Mass/volume] in Serum or Plasma
0
12
0.00
0.21
0.0
1.6
—
—
—
0
0
(3004248) Sex hormone binding globulin [Moles/volume] in Serum or Plasma
0
14
0.00
0.20
0.0
2.0
—
37.9
—
0
14
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
17
149
1.22
0.19
8.0
4.7
—
—
—
0
0
(3009035) Cobalamin (Vitamin B12) [Moles/volume] in Serum or Plasma
8
97
0.79
0.15
2.5
1.8
pmol/l
606.1
474.9
—
8
85
(3003694) ABO and Rh group [Type] in Blood
10
112
0.87
0.08
1.3
1.4
—
—
—
0
0
(1761868) Lipid panel - Serum or Plasma
11
120
0.89
0.05
2.0
3.2
—
—
—
0
0
(3019800) Troponin T.cardiac [Mass/volume] in Serum or Plasma
16
154
1.06
0.01
4.8
4.5
ng/l
23.0
24.0
—
10
110
(40761511) CBC panel - Blood by Automated count
41
404
1.09
0.00
31.1
12.3
—
—
—
0
0
(1002102) Choriogonadotropin.intact+Beta subunit [Mass/volume] in Serum or Plasma
0
8
0.00
0.00
0.0
1.5
—
—
—
0
0
(3033705) Calcium.ionized [Moles/volume] in Venous blood
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
(40768441) Liver Pathology biopsy report
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(21492888) Glucose tolerance 2 hours gestational panel - Serum or Plasma
0
8
0.00
0.00
0.0
2.1
—
—
—
0
0
(3018387) Mycoplasma pneumoniae IgG Ab [Units/volume] in Serum
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
(42529200) Cancer Ag 15-3 [Units/volume] in Serum or Plasma by Immunoassay
0
5
0.00
0.00
0.0
6.0
—
105.6
—
0
5
(3002523) Influenza virus A Ag [Presence] in Specimen
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3003181) Sodium [Moles/volume] in Urine
0
6
0.00
0.00
0.0
1.2
—
41.3
—
0
6
(21494890) Protein electrophoresis panel - 24 hour Urine
0
5
0.00
0.00
0.0
7.6
—
—
—
0
0
(4306422)
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(43055361) Metamyelocytes/Leukocytes [Pure number fraction] in Blood by Manual count
0
6
0.00
0.00
0.0
2.2
—
—
—
0
0
(3015816) F5 gene p.Arg506Gln [Presence] in Blood or Tissue by Molecular genetics method
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
(3015916) Alpha-1-Fetoprotein [Units/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
1.1
—
2.3
—
0
7
(3041942) Cyclic citrullinated peptide Ab [Units/volume] in Serum
6
68
0.87
0.00
1.2
1.2
—
11.2
—
0
26
(3019284) Hepatitis B virus surface Ag [Presence] in Serum
6
68
0.87
0.00
1.5
1.7
—
—
—
0
0
(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep
5
52
0.96
0.00
1.6
1.3
—
—
—
0
0
(3020629) Protein S Free Ag actual/normal in Platelet poor plasma by Immunoassay
0
6
0.00
0.00
0.0
1.0
—
84.3
—
0
6
(3003740) Influenza virus B Ag [Presence] in Specimen
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3016244) Insulin [Units/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.6
—
13.2
—
0
5
(4268621)
0
8
0.00
0.00
0.0
1.8
—
—
—
0
0
(3035285) Chloride [Moles/volume] in Venous blood
0
5
0.00
0.00
0.0
2.0
—
110.0
—
0
5
(40768800) Prostate Pathology biopsy report
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture
0
8
0.00
0.00
0.0
1.6
—
—
—
0
0
(3038515) Glucose [Moles/volume] in Venous blood
0
7
0.00
0.00
0.0
2.7
—
8.3
—
0
7
(3039162) Centromere protein B Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(40764999) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (CKD-EPI)
35
350
1.00
0.00
34.9
12.7
ml/min/173m2
83.5
78.4
0.34
29
266
(1175715) Chlamydophila pneumoniae IgM Ab [Presence] in Serum by Immunoassay
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3008037) Lactate [Moles/volume] in Venous blood
0
8
0.00
0.00
0.0
2.5
—
1.4
—
0
8
(3020287) Protein C actual/normal in Platelet poor plasma by Coagulation assay
0
8
0.00
0.00
0.0
1.0
—
118.9
—
0
8
(3005570) Glucose [Moles/volume] in Urine
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(3032773) Endomysium IgG Ab [Titer] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3041354) Potassium [Moles/volume] in Venous blood
0
5
0.00
0.00
0.0
2.0
—
4.1
—
0
5
(3027953) Aldolase [Enzymatic activity/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.2
—
11.9
—
0
5

Mortality – FinRegistry

Association

Association between endpoint D3_OCID and mortality.

Females

No data

Males

Parameter HR [95% CI] p-value
D3_OCID 2.764 [1.72, 4.44] < 0.001
Birth year 0.989 [0.98, 1.0] 0.017

During the follow-up period (1.1.1998 — 31.12.2019), 54 out of 122 males with D3_OCID died.

Mortality risk

Mortality risk for people of age

years, who have D3_OCID.

N-year risk Females Males
1 No data 0.54%
5 No data 3.146%
10 No data 7.953%
15 No data 14.981%
20 No data 24.348%

Relationships between endpoints

Index endpoint: D3_OCID – Other combined immunodeficiencies

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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