Other combined immunodeficiencies

D3_OCID

No definition available.

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

NAME	D3_OCID
CONTROL_EXCLUDE	D3_IMMUNEMECHANISM
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	D818
HD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	D818
COD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_10_EXCL
COD_ICD_9_EXCL
COD_ICD_8_EXCL
OPER_NOM
OPER_HL
OPER_HP1
OPER_HP2
KELA_REIMB
KELA_REIMB_ICD
KELA_ATC_NEEDOTHER
KELA_ATC
KELA_VNRO_NEEDOTHER
KELA_VNRO
CANC_TOPO
CANC_TOPO_EXCL
CANC_MORPH
CANC_MORPH_EXCL
CANC_BEHAV

Similar endpoints

↥

List of similar endpoints to Other combined immunodeficiencies based on the number of shared cases.

Similar with more cases:

Similar with less cases:

None

Case counts by codes

↥

FinnGen case counts by registry codes:

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

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3013924) Clostridium tetani IgG Ab [Units/volume] in Serum

+∞

5.29

2.2

0.0

—

(3042936) Bacteria identified in Isolate by Culture

4.84

4.90

4.4

2.4

—

(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection

4.69

4.73

3.0

1.5

—

(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection

4.35

4.06

3.0

1.6

—

(3020779) Urea [Moles/volume] in Serum or Plasma

4.09

3.76

7.3

5.1

10.6

8.5

mmol/l

0.37

(3023368) Bacteria identified in Blood by Culture

3.08

3.47

12.0

3.3

—

(3022250) Lactate dehydrogenase [Enzymatic activity/volume] in Serum or Plasma by Lactate to pyruvate reaction

3.75

3.35

4.4

6.1

202.7

246.1

u/l

1.90

(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection

3.44

3.32

3.6

1.8

—

(3007853) Bacteria identified in Skin by Aerobe culture

3.88

3.29

3.1

1.4

—

(3016431) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma

190

2.97

3.24

10.5

6.0

1.2

mmol/l

0.57

159

(3014162) Mycobacterium tuberculosis DNA [Presence] in Specimen by NAA with probe detection

8.34

3.15

4.2

2.3

—

(3001079) Blood group antibody screen [Presence] in Serum or Plasma

173

2.66

2.77

4.3

4.0

—

(46236098) ABO and Rh group [Type] in Blood by Confirmatory method

2.81

2.70

1.5

1.9

—

(42870588) Differential panel, method unspecified - Blood

124

2.61

2.67

19.7

5.9

—

(3011960) Natriuretic peptide B [Mass/volume] in Serum or Plasma

3.84

2.54

3.4

1.7

102.1

113.0

ng/l

—

(586526) SARS-CoV-2 (COVID-19) RNA [Presence] in Nasopharynx by NAA with probe detection

4.61

2.46

1.3

1.2

—

(3044640) Blood type and Crossmatch panel - Blood

117

2.39

2.20

2.0

1.9

—

(3000494) Fungus identified in Specimen by Culture

2.93

2.19

2.3

1.5

—

(3007844) Epstein Barr virus capsid IgM Ab [Units/volume] in Serum by Immunoassay

5.42

2.12

1.6

1.1

—

(3042194) Human metapneumovirus RNA [Presence] in Specimen by NAA with probe detection

5.42

2.12

2.8

1.8

—

(3040853) Adenovirus DNA [Identifier] in Specimen by NAA with probe detection

5.42

2.12

2.8

1.8

—

(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

4.40

2.11

2.3

1.5

—

(43054903) Holo-transcobalamin II [Moles/volume] in Serum

136

2.30

2.09

2.6

1.8

80.0

98.0

pmol/l

1.09

(3033658) Prothrombin time (PT) actual/Normal

2.38

2.05

4.2

2.8

91.3

85.8

0.46

(3002434) Lupus erythematosus deoxynucleoproteins IgG Ab [Units/volume] in Serum by Immunoassay

4.12

2.00

2.7

2.0

—

(40758558) Short blood count panel - Blood

2.32

1.95

11.9

8.2

—

(40768797) Stomach Pathology biopsy report

2.73

1.94

1.3

1.2

—

(3051552) Clostridioides difficile toxin genes [Presence] in Stool by NAA with probe detection

3.23

1.80

2.1

1.4

—

(3015635) Cytomegalovirus IgM Ab [Units/volume] in Serum or Plasma

4.15

1.76

1.2

1.1

—

(3018010) Neutrophils/100 leukocytes in Blood

185

2.02

1.57

19.1

5.6

59.0

55.5

0.74

175

(3037467) Urinalysis macro (dipstick) panel - Urine

264

2.14

1.56

8.2

4.7

—

(3048929) Epstein Barr virus Ab [Presence] in Serum

3.58

1.56

1.8

1.1

—

(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count

150

2.01

1.53

7.3

2.7

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

3.35

1.47

1.0

1.2

—

(3006504) Eosinophils/100 leukocytes in Blood

179

1.96

1.47

21.1

5.7

3.3

2.8

0.64

167

(3019069) Monocytes/100 leukocytes in Blood

180

1.95

1.43

22.0

5.9

9.1

8.5

0.48

170

(3022096) Basophils/100 leukocytes in Blood

172

1.93

1.39

21.3

5.7

0.7

0.01

160

(3021960) Folate [Moles/volume] in Serum or Plasma

2.05

1.30

1.7

1.4

21.7

23.1

nmol/l

0.15

(3025941) Bacteria identified in Stool by Culture

2.81

1.24

2.2

1.1

—

(3012544) pH of Venous blood

2.19

1.18

2.3

6.3

—

(36304419) Bacteria [Presence] in Urine

111

1.81

1.06

4.5

2.4

—

(3015736) pH of Urine

150

1.70

0.96

4.0

3.8

—

(3000991) Gas panel - Venous blood

2.08

0.94

2.0

4.3

—

(3026008) Bacteria identified in Urine by Culture

124

1.71

0.93

3.6

3.1

—

(46235355) HIV 1 and 2 tests - Meaningful Use set

1.89

0.91

1.5

2.0

—

(3003396) Base excess in Arterial blood by calculation

1.97

0.91

3.4

4.8

1.7

1.3

mmol/l

—

(3032080) INR in Blood by Coagulation assay

143

1.67

0.90

10.6

7.3

1.2

1.3

inr

—

(3009542) Hematocrit [Volume Fraction] of Blood

345

1.87

0.87

25.8

14.0

39.1

39.8

0.30

245

(4035726)

1.99

0.85

3.3

1.2

—

(3022948) Iron [Moles/volume] in Serum or Plasma

1.87

0.83

3.1

1.8

13.2

14.7

umol/l

—

(43534045) MCM6 gene c.-13910C>T and -13915T>G [Identifier] in Blood or Tissue by Molecular genetics method Nominal

0.00

0.81

0.0

1.0

—

(3004789) Transferrin [Mass/volume] in Serum or Plasma

1.81

0.80

3.2

1.7

2.0

2.5

g/l

—

(3004716) Salmonella sp identified in Stool by Organism specific culture

2.30

0.78

1.4

1.3

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

1.98

0.77

1.3

1.4

—

(3030981) Hyaline casts [#/volume] in Urine by Automated count

2.20

0.77

6.4

2.4

0.4

0.1

e6/l

—

(40768804) Tissue Pathology biopsy report

139

1.60

0.76

2.5

2.0

—

(3031040) Bacteria [#/volume] in Urine by Automated count

265

1.60

0.76

6.1

4.5

—

22.4

—

(3002256) Pathology report gross observation

1.87

0.75

1.6

1.2

—

(3021447) Carbon dioxide [Partial pressure] in Venous blood

1.78

0.72

2.3

6.1

5.6

5.7

kpa

—

(3017143) Hepatitis C virus Ab [Presence] in Serum

1.75

0.66

1.9

1.7

—

(3022217) INR in Platelet poor plasma by Coagulation assay

1.75

0.66

29.6

29.5

—

1.7

—

(3019225) pH of Specimen

1.80

0.65

8.8

2.8

—

(3029187) Natriuretic peptide.B prohormone N-Terminal [Mass/volume] in Serum or Plasma

116

1.56

0.65

2.8

4.1

2602.5

1602.5

ng/l

0.18

100

(3011397) Hemoglobin [Presence] in Urine by Test strip

1.60

0.63

4.5

3.7

—

(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection

221

1.49

0.63

4.0

2.8

—

(3009508) Creatinine [Moles/volume] in Urine

126

1.53

0.63

4.3

2.7

6.7

8.1

mmol/l

0.62

110

(40763571) Iron/Transferrin [Ratio] in Serum or Plasma

1.61

0.62

4.0

1.6

24.6

26.6

—

(3016293) Bicarbonate [Moles/volume] in Serum or Plasma

1.87

0.61

3.3

8.7

26.3

25.3

mmol/l

—

(3024354) Oxygen [Partial pressure] in Venous blood

1.61

0.55

1.3

6.5

4.5

4.2

kpa

—

(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture

0.56

0.51

1.4

1.5

—

(3022621) pH of Urine by Test strip

1.68

0.44

1.2

2.7

—

(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture

1.68

0.44

7.4

5.0

—

(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection

1.62

0.44

2.2

1.7

—

(3001019) Free T4 and TSH panel - Serum or Plasma

0.00

0.42

0.0

1.7

—

(3050129) First trimester maternal screen panel - Serum or Plasma

0.00

0.41

0.0

1.4

—

(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma

1.41

0.36

12.3

8.9

—

(3041096) Erythrocytes [Presence] in Urine by Automated

103

1.36

0.32

7.4

4.3

—

(3013512) EKG study

119

0.70

0.32

4.1

3.9

—

(40760892) CBC W Ordered Manual Differential panel - Blood

1.38

0.31

16.5

5.0

—

(3044889) 12 lead EKG panel

272

1.27

0.27

6.1

3.8

—

(46235831) Pregnancy associated plasma protein A [Multiple of the median] adjusted in Serum or Plasma

0.00

0.21

0.0

1.5

—

(40763531) Fetal Nuchal fold [Multiple of the median] Thickness adjusted for maternal weight

0.00

0.21

0.0

1.5

—

(3005033) Fetal Nuchal fold Thickness US

0.00

0.21

0.0

1.5

—

(3008714) Choriogonadotropin [Multiple of the median] adjusted in Serum or Plasma

0.00

0.21

0.0

1.5

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

0.21

0.0

1.5

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

0.21

0.0

1.6

—

(3049207) Fetal Trisomy 21 risk [Likelihood] Based on maternal age

0.00

0.21

0.0

1.5

—

(1761482) Bacteria [#/volume] in Urine by Culture

0.00

0.21

0.0

6.1

—

(40768793) Breast Pathology biopsy report

0.00

0.21

0.0

1.5

—

(3020321) Streptococcus agalactiae [Presence] in Vaginal fluid by Organism specific culture

0.00

0.21

0.0

1.4

—

(3003191) Choriogonadotropin (pregnancy test) [Presence] in Serum or Plasma

0.00

0.21

0.0

2.0

—

(3009041) Cardiolipin IgG Ab [Units/volume] in Serum by Immunoassay

0.00

0.21

0.0

1.0

—

3.0

—

(3019145) Choriogonadotropin.beta subunit free [Mass/volume] in Serum or Plasma

0.00

0.21

0.0

1.6

—

(3004248) Sex hormone binding globulin [Moles/volume] in Serum or Plasma

0.00

0.20

0.0

2.0

—

37.9

—

(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip

149

1.22

0.19

8.0

4.7

—

(3009035) Cobalamin (Vitamin B12) [Moles/volume] in Serum or Plasma

0.79

0.15

2.5

1.8

606.1

474.9

pmol/l

—

(3003694) ABO and Rh group [Type] in Blood

112

0.87

0.08

1.3

1.4

—

(1761868) Lipid panel - Serum or Plasma

120

0.89

0.05

2.0

3.2

—

(3019800) Troponin T.cardiac [Mass/volume] in Serum or Plasma

154

1.06

0.01

4.8

4.5

23.0

24.0

ng/l

—

110

(40761511) CBC panel - Blood by Automated count

404

1.09

0.00

31.1

12.3

—

(1002102) Choriogonadotropin.intact+Beta subunit [Mass/volume] in Serum or Plasma

0.00

0.0

1.5

—

(3033705) Calcium.ionized [Moles/volume] in Venous blood

0.00

0.0

2.0

—

(40768441) Liver Pathology biopsy report

0.00

0.0

1.0

—

(21492888) Glucose tolerance 2 hours gestational panel - Serum or Plasma

0.00

0.0

2.1

—

(3018387) Mycoplasma pneumoniae IgG Ab [Units/volume] in Serum

0.00

0.0

1.0

—

(42529200) Cancer Ag 15-3 [Units/volume] in Serum or Plasma by Immunoassay

0.00

0.0

6.0

—

105.6

—

(3002523) Influenza virus A Ag [Presence] in Specimen

0.00

0.0

1.0

—

(3003181) Sodium [Moles/volume] in Urine

0.00

0.0

1.2

—

41.3

—

(21494890) Protein electrophoresis panel - 24 hour Urine

0.00

0.0

7.6

—

(4306422)

0.00

0.0

1.0

—

(43055361) Metamyelocytes/Leukocytes [Pure number fraction] in Blood by Manual count

0.00

0.0

2.2

—

(3015816) F5 gene p.Arg506Gln [Presence] in Blood or Tissue by Molecular genetics method

0.00

0.0

1.0

—

(3015916) Alpha-1-Fetoprotein [Units/volume] in Serum or Plasma

0.00

0.0

1.1

—

2.3

—

(3041942) Cyclic citrullinated peptide Ab [Units/volume] in Serum

0.87

0.00

1.2

—

11.2

—

(3019284) Hepatitis B virus surface Ag [Presence] in Serum

0.87

0.00

1.5

1.7

—

(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep

0.96

0.00

1.6

1.3

—

(3020629) Protein S Free Ag actual/normal in Platelet poor plasma by Immunoassay

0.00

0.0

1.0

—

84.3

—

(3003740) Influenza virus B Ag [Presence] in Specimen

0.00

0.0

1.0

—

(3016244) Insulin [Units/volume] in Serum or Plasma

0.00

0.0

1.6

—

13.2

—

(4268621)

0.00

0.0

1.8

—

(3035285) Chloride [Moles/volume] in Venous blood

0.00

0.0

2.0

—

110.0

—

(40768800) Prostate Pathology biopsy report

0.00

0.0

1.2

—

(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture

0.00

0.0

1.6

—

(3038515) Glucose [Moles/volume] in Venous blood

0.00

0.0

2.7

—

8.3

—

(3039162) Centromere protein B Ab [Units/volume] in Serum

0.00

0.0

1.2

—

(40764999) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (CKD-EPI)

350

1.00

0.00

34.9

12.7

83.5

78.4

ml/min/173m2

0.34

266

(1175715) Chlamydophila pneumoniae IgM Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.2

—

(3008037) Lactate [Moles/volume] in Venous blood

0.00

0.0

2.5

—

1.4

—

(3020287) Protein C actual/normal in Platelet poor plasma by Coagulation assay

0.00

0.0

1.0

—

118.9

—

(3005570) Glucose [Moles/volume] in Urine

0.00

0.0

1.6

—

(3032773) Endomysium IgG Ab [Titer] in Serum

0.00

0.0

1.0

—

(3041354) Potassium [Moles/volume] in Venous blood

0.00

0.0

2.0

—

4.1

—

(3027953) Aldolase [Enzymatic activity/volume] in Serum or Plasma

0.00

0.0

1.2

—

11.9

—

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]

rg [CI]

Hits

Coloc Hits

FinRegistry

FinnGen

FinRegistry

FinnGen

Loading data

Other combined immunodeficiencies

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

1. Apply sex-specific rule

2. Check conditions

3. Check pre-conditions, main-only, mode, registry filters

4. Check minimum number of events

5. Include endpoints

6. Filter based on genotype QC (FinnGen only)

Similar endpoints

Case counts by codes

Summary Statistics

-FinRegistry-

Key figures

-FinnGen-

Key figures

-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

CodeWAS (R11)

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints