Immunodeficiencies

D3_IMMUDEF

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

None

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

0

4. Check minimum number of events

None

0

5. Include endpoints

1657

6. Filter based on genotype QC (FinnGen only)

1580

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

Extra metadata

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

Similar endpoints

List of similar endpoints to 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:

No data for upset plot.

No data for upset table.

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 10839 6244 4540
Only index persons 9278 5498 3780
Unadjusted period prevalence (%)
Whole population 0.16 0.18 0.13
Only index persons 0.18 0.20 0.14
Median age at first event (years)
Whole population 48.68 49.36 47.54
Only index persons 47.60 48.42 46.40

-FinnGen-

Key figures

All Female Male
Number of individuals 1580 1011 569
Unadjusted period prevalence (%) 0.36 0.40 0.29
Median age at first event (years) 50.07 47.53 54.59

-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

Mortality – FinRegistry

Association

Association between endpoint D3_IMMUDEF and mortality.

Females

Parameter HR [95% CI] p-value
D3_IMMUDEF 2.207 [1.97, 2.48] < 0.001
Birth year 0.996 [0.99, 1.0] 0.33

During the follow-up period (1.1.1998 — 31.12.2019), 1143 out of 5305 females with D3_IMMUDEF died.

Males

Parameter HR [95% CI] p-value
D3_IMMUDEF 2.277 [1.99, 2.6] < 0.001
Birth year 0.989 [0.98, 1.0] 0.016

During the follow-up period (1.1.1998 — 31.12.2019), 1047 out of 3714 males with D3_IMMUDEF died.

Mortality risk

Mortality risk for people of age

years, who have D3_IMMUDEF.

N-year risk Females Males
1 0.213% 0.443%
5 1.299% 2.692%
10 3.201% 6.61%
15 6.311% 12.155%
20 10.873% 20.671%

Relationships between endpoints

Index endpoint: D3_IMMUDEF – 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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