Immunodeficiency associated with other major defects

D3_IMMUDEFWITHMAJORDEF

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 D82
  • Cause of death: ICD-10 D82

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

-

4. Check minimum number of events

None

-

5. Include endpoints

84

6. Filter based on genotype QC (FinnGen only)

79

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 Deficientia immunalis cum aliis defectibus majoribus

Similar endpoints

List of similar endpoints to Immunodeficiency associated with other major defects 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 728 368 358
Only index persons 577 295 282
Unadjusted period prevalence (%)
Whole population 0.01 0.01 0.01
Only index persons 0.01 0.01 0.01
Median age at first event (years)
Whole population 40.88 42.53 39.01
Only index persons 41.82 43.29 40.28

-FinnGen-

Key figures

All Female Male
Number of individuals 79 40 39
Unadjusted period prevalence (%) 0.02 0.02 0.02
Median age at first event (years) 47.08 44.98 49.22

-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_IMMUDEFWITHMAJORDEF and mortality.

Females

Parameter HR [95% CI] p-value
D3_IMMUDEFWITHMAJORDEF 2.935 [1.94, 4.44] < 0.001
Birth year 0.995 [0.99, 1.0] 0.289

During the follow-up period (1.1.1998 — 31.12.2019), 66 out of 294 females with D3_IMMUDEFWITHMAJORDEF died.

Males

Parameter HR [95% CI] p-value
D3_IMMUDEFWITHMAJORDEF 2.666 [1.66, 4.28] < 0.001
Birth year 0.985 [0.98, 0.99] 0.002

During the follow-up period (1.1.1998 — 31.12.2019), 70 out of 293 males with D3_IMMUDEFWITHMAJORDEF died.

Mortality risk

Mortality risk for people of age

years, who have D3_IMMUDEFWITHMAJORDEF.

N-year risk Females Males
1 0.285% 0.428%
5 1.877% 2.813%
10 4.685% 6.763%
15 8.607% 13.305%
20 14.179% 21.391%

Relationships between endpoints

Index endpoint: D3_IMMUDEFWITHMAJORDEF – Immunodeficiency associated with other major defects

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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