Combined immunodeficiencies

D3_COMBIMMUDEF

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

473681

1. Apply sex-specific rule

None

473681

2. Check conditions

None

473681

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

Registry filters:

  • Hospital discharge: ICD-10 D81
  • Cause of death: ICD-10 D81

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

365

4. Check minimum number of events

None

365

5. Include endpoints

365

6. Filter based on genotype QC (FinnGen only)

353

Control definitions (FinnGen only)

Control exclude D3_IMMUNEMECHANISM

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2
Parent code in ICD-10 D80-D89
Name in latin Deficientiae immunales mixtae

Similar endpoints

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

Venn diagram with an highlighted set fully inside another set Similar with more cases:

Venn diagram with a set fully inside an highlighted set Similar with less cases:

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 3113 1722 1368
Only index persons 2640 1511 1129
Unadjusted period prevalence (%)
Whole population 0.04 0.05 0.04
Only index persons 0.05 0.06 0.04
Median age at first event (years)
Whole population 56.62 54.81 58.78
Only index persons 54.63 53.01 56.80

-FinnGen-

Key figures

All Female Male
Number of individuals 353 215 138
Unadjusted period prevalence (%) 0.08 0.08 0.07
Median age at first event (years) 54.39 49.95 61.30

-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

No data

Mortality – FinRegistry

Association

Association between endpoint D3_COMBIMMUDEF and mortality.

Females

Parameter HR [95% CI] p-value
D3_COMBIMMUDEF 1.981 [1.72, 2.29] < 0.001
Birth year 0.995 [0.99, 1.0] 0.207

During the follow-up period (1.1.1998 — 31.12.2019), 454 out of 1489 females with D3_COMBIMMUDEF died.

Males

Parameter HR [95% CI] p-value
D3_COMBIMMUDEF 2.256 [1.92, 2.65] < 0.001
Birth year 0.986 [0.98, 1.0] 0.005

During the follow-up period (1.1.1998 — 31.12.2019), 516 out of 1183 males with D3_COMBIMMUDEF died.

Mortality risk

Mortality risk for people of age

years, who have D3_COMBIMMUDEF.

N-year risk Females Males
1 0.171% 0.394%
5 1.141% 2.075%
10 2.912% 5.699%
15 5.574% 11.202%
20 9.77% 18.871%

Relationships between endpoints

Index endpoint: D3_COMBIMMUDEF – 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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