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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

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

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

20

4. Check minimum number of events

None

20

5. Include endpoints

None

20

6. Filter based on genotype QC (FinnGen only)

20

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 20 13 7
Unadjusted period prevalence (%) 0.00 0.00 0.00
Median age at first event (years) 46.37 44.57 49.73

-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

OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
unit
cases
controls
-log10(p)
N cases
N controls
(3005322) IgE [Units/volume] in Serum or Plasma
13
9
37.64
10.04
5.7
1.2
u/ml
3870.4
70.9
—
13
9
(42870588) Differential panel, method unspecified - Blood
13
43
6.70
3.99
15.2
6.7
—
—
—
0
0
(40758558) Short blood count panel - Blood
11
40
4.84
2.92
12.8
8.2
—
—
—
0
0
(3023368) Bacteria identified in Blood by Culture
10
35
4.71
2.78
7.6
4.5
—
—
—
0
0
(3000492) Spirometry study
7
16
6.11
2.76
1.6
1.6
—
—
—
0
0
(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection
7
24
3.91
1.94
3.4
1.9
—
—
—
0
0
(3009035) Cobalamin (Vitamin B12) [Moles/volume] in Serum or Plasma
6
18
4.29
1.91
1.5
1.7
pmol/l
454.8
383.1
—
6
18
(3003458) Phosphate [Moles/volume] in Serum or Plasma
5
16
3.80
1.54
4.6
7.3
mmol/l
1.1
1.0
—
5
16
(3019198) Lymphocytes [#/volume] in Blood
13
80
2.77
1.45
22.1
5.7
e9/l
2.0
1.8
0.66
13
72
(3042936) Bacteria identified in Isolate by Culture
5
18
3.34
1.37
4.6
1.3
—
—
—
0
0
(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection
5
18
3.34
1.37
4.2
1.4
—
—
—
0
0
(3015399) Transferrin receptor.soluble [Mass/volume] in Serum or Plasma
6
25
2.98
1.36
3.0
1.7
mg/l
1.6
3.0
—
6
17
(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection
5
19
3.15
1.30
4.0
1.4
—
—
—
0
0
(40768797) Stomach Pathology biopsy report
5
20
2.98
1.23
1.6
1.3
—
—
—
0
0
(3006315) Basophils [#/volume] in Blood
12
76
2.44
1.04
23.1
5.9
e9/l
0.0
0.0
0.35
12
69
(3001604) Monocytes [#/volume] in Blood
12
76
2.44
1.04
23.1
5.9
e9/l
0.6
0.5
0.32
12
69
(3013115) Eosinophils [#/volume] in Blood
12
79
2.29
1.02
25.1
5.8
e9/l
0.6
0.2
0.71
12
70
(3032080) INR in Blood by Coagulation assay
8
46
2.22
0.98
11.6
6.0
—
1.2
—
0
14
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
9
55
2.15
0.91
5.0
2.6
—
—
—
0
0
(3033658) Prothrombin time (PT) actual/Normal
7
40
2.15
0.82
4.4
2.9
%
96.9
91.9
—
7
40
(36304419) Bacteria [Presence] in Urine
8
49
2.05
0.75
5.0
2.7
—
—
—
0
0
(3015377) Calcium [Moles/volume] in Serum or Plasma
8
49
2.05
0.75
3.1
3.0
mmol/l
2.3
2.4
—
8
42
(3015736) pH of Urine
10
65
2.08
0.73
2.1
2.7
—
—
—
0
0
(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture
5
29
1.96
0.69
1.0
1.4
—
—
—
0
0
(3009261) Glucose [Presence] in Urine by Test strip
11
81
1.79
0.62
2.1
2.7
—
0.0
—
0
15
(3021601) Nitrite [Presence] in Urine by Test strip
11
81
1.79
0.62
3.6
4.0
—
0.0
—
0
17
(3035350) Ketones [Presence] in Urine by Test strip
11
82
1.75
0.61
2.0
2.6
—
0.0
—
0
17
(3044640) Blood type and Crossmatch panel - Blood
7
45
1.85
0.57
2.3
2.3
—
—
—
0
0
(3021589) Normoblasts [#/volume] in Blood
10
71
1.82
0.52
18.1
7.1
e9/l
0.0
0.0
—
10
60
(3051714) Fibrin D-dimer FEU [Mass/volume] in Platelet poor plasma
5
31
1.81
0.47
1.8
1.7
mg/l
1.7
0.8
—
5
25
(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep
5
33
1.68
0.45
1.4
1.2
—
—
—
0
0
(1761868) Lipid panel - Serum or Plasma
8
60
1.55
0.35
2.4
2.3
—
—
—
0
0
(3013650) Neutrophils [#/volume] in Blood by Automated count
12
98
1.56
0.32
29.1
8.7
e9/l
4.2
3.8
0.25
12
83
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
5
36
1.52
0.26
2.2
2.4
—
—
—
0
0
(3009508) Creatinine [Moles/volume] in Urine
5
38
1.42
0.26
4.0
3.3
mmol/l
8.7
7.9
—
5
32
(3011397) Hemoglobin [Presence] in Urine by Test strip
5
39
1.37
0.25
1.8
3.0
—
—
—
0
0
(3003694) ABO and Rh group [Type] in Blood
6
49
1.32
0.23
1.5
1.4
—
—
—
0
0
(3020961) Endomysium IgA Ab [Titer] in Serum
0
10
0.00
0.22
0.0
1.2
—
—
—
0
0
(40763531) Fetal Nuchal fold [Multiple of the median] Thickness adjusted for maternal weight
0
12
0.00
0.22
0.0
1.4
—
—
—
0
0
(3008714) Choriogonadotropin [Multiple of the median] adjusted in Serum or Plasma
0
12
0.00
0.22
0.0
1.4
—
—
—
0
0
(3022621) pH of Urine by Test strip
0
12
0.00
0.22
0.0
1.6
—
—
—
0
0
(3005033) Fetal Nuchal fold Thickness US
0
12
0.00
0.22
0.0
1.4
—
—
—
0
0
(40761536) Microorganisms panel - Urine sediment
0
12
0.00
0.22
0.0
2.0
—
—
—
0
0
(3047352) Trisomy 18 risk [Likelihood] in Fetus
0
12
0.00
0.22
0.0
1.4
—
—
—
0
0
(3049207) Fetal Trisomy 21 risk [Likelihood] Based on maternal age
0
12
0.00
0.22
0.0
1.4
—
—
—
0
0
(46235831) Pregnancy associated plasma protein A [Multiple of the median] adjusted in Serum or Plasma
0
12
0.00
0.22
0.0
1.4
—
—
—
0
0
(46236952) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (MDRD)
0
12
0.00
0.22
0.0
4.3
—
79.5
—
0
6
(3043238) Trisomy 21 risk [Likelihood] in Fetus
0
13
0.00
0.21
0.0
1.5
—
—
—
0
0
(40768804) Tissue Pathology biopsy report
8
66
1.35
0.21
1.4
1.8
—
—
—
0
0
(3019284) Hepatitis B virus surface Ag [Presence] in Serum
5
43
1.22
0.11
1.4
1.7
—
—
—
0
0
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
7
79
0.83
0.09
5.1
3.5
—
—
—
0
0
(3044889) 12 lead EKG panel
11
99
1.25
0.09
3.1
3.0
—
—
—
0
0
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
11
106
1.08
0.00
4.0
3.3
—
—
—
0
0
(3000855) Microscopic observation [Identifier] in Vaginal fluid by Gram stain
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3029511) Human papilloma virus DNA [Presence] in Specimen by NAA with probe detection
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(40758310) Human epididymis protein 4 [Moles/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
1.4
—
58.0
—
0
7
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
6
64
0.91
0.00
2.0
2.3
—
—
—
0
0
(3015816) F5 gene p.Arg506Gln [Presence] in Blood or Tissue by Molecular genetics method
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3037756) Immunofixation for Serum or Plasma
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
(3000515) Antithrombin actual/normal in Platelet poor plasma by Chromogenic method
0
5
0.00
0.00
0.0
1.2
—
106.4
—
0
5
(36032419) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Immunoassay
0
8
0.00
0.00
0.0
4.0
—
—
—
0
0
(3010521) Mycoplasma pneumoniae IgM Ab [Presence] in Serum by Immunoassay
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3041096) Erythrocytes [Presence] in Urine by Automated
5
52
0.95
0.00
2.2
1.9
—
—
—
0
0
(3045414) Leukocytes [Presence] in Urine
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
(46235355) HIV 1 and 2 tests - Meaningful Use set
5
54
0.90
0.00
1.6
1.9
—
—
—
0
0
(3021387) Prolactin [Units/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.2
—
243.7
—
0
6
(3013527) Hepatitis B virus core IgM Ab [Presence] in Serum
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
(3000330) Specific gravity of Urine by Test strip
0
6
0.00
0.00
0.0
2.3
—
—
—
0
0
(40761535) Cells panel - Urine sediment
0
6
0.00
0.00
0.0
2.8
—
—
—
0
0
(3001019) Free T4 and TSH panel - Serum or Plasma
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
(4034850)
0
5
0.00
0.00
0.0
4.8
—
—
—
0
0
(3023939) Sjogrens syndrome-A extractable nuclear Ab [Units/volume] in Serum
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0

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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