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Hyperimmunoglobulin E [IgE] syndrome

D3_HYPERIGESDR

obsolete_Job's syndrome: ['Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share.']

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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 D82.4
  • Cause of death: ICD-10 D82.4

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

18

4. Check minimum number of events

None

18

5. Include endpoints

None

18

6. Filter based on genotype QC (FinnGen only)

17

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 D82
Name in latin Syndroma hyperimmunoglobulini E (IgE)

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 149 68 80
Only index persons 126 60 66
Unadjusted period prevalence (%)
Whole population 0.00 0.00 0.00
Only index persons 0.00 0.00 0.00
Median age at first event (years)
Whole population 33.89 31.37 35.59
Only index persons 34.14 33.34 34.87

-FinnGen-

Key figures

All Female Male
Number of individuals 17 11 6
Unadjusted period prevalence (%) 0.00 0.00 0.00
Median age at first event (years) 38.64 32.73 49.48

-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.

Mortality – FinRegistry

Association

Association between endpoint D3_HYPERIGESDR and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have D3_HYPERIGESDR.

N-year risk Females Males
1 No data No data
5 No data No data
10 No data No data
15 No data No data
20 No data No data

Relationships between endpoints

Index endpoint: D3_HYPERIGESDR – Hyperimmunoglobulin E [IgE] syndrome

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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