This is a non-core endpoint: only basic statistics are computed.

See these related core endpoints for full statistics:

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.']

Suggest a new description

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)

NAME	D3_HYPERIGESDR
CONTROL_EXCLUDE	D3_IMMUNEMECHANISM
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	D824
HD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	D824
COD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_10_EXCL
COD_ICD_9_EXCL
COD_ICD_8_EXCL
OPER_NOM
OPER_HL
OPER_HP1
OPER_HP2
KELA_REIMB
KELA_REIMB_ICD
KELA_ATC_NEEDOTHER
KELA_ATC
KELA_VNRO_NEEDOTHER
KELA_VNRO
CANC_TOPO
CANC_TOPO_EXCL
CANC_MORPH
CANC_MORPH_EXCL
CANC_BEHAV

Similar endpoints

↥

List of similar endpoints to Hyperimmunoglobulin E [IgE] syndrome based on the number of shared cases.

Similar with more cases:

Similar with less cases:

None

Case counts by codes

↥

FinnGen case counts by registry codes:

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

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3005322) IgE [Units/volume] in Serum or Plasma

37.64

10.04

5.7

1.2

3870.4

70.9

u/ml

—

(42870588) Differential panel, method unspecified - Blood

6.70

3.99

15.2

6.7

—

(40758558) Short blood count panel - Blood

4.84

2.92

12.8

8.2

—

(3023368) Bacteria identified in Blood by Culture

4.71

2.78

7.6

4.5

—

(3000492) Spirometry study

6.11

2.76

1.6

—

(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection

3.91

1.94

3.4

1.9

—

(3009035) Cobalamin (Vitamin B12) [Moles/volume] in Serum or Plasma

4.29

1.91

1.5

1.7

454.8

383.1

pmol/l

—

(3003458) Phosphate [Moles/volume] in Serum or Plasma

3.80

1.54

4.6

7.3

1.1

1.0

mmol/l

—

(3019198) Lymphocytes [#/volume] in Blood

2.77

1.45

22.1

5.7

2.0

1.8

e9/l

0.66

(3042936) Bacteria identified in Isolate by Culture

3.34

1.37

4.6

1.3

—

(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection

3.34

1.37

4.2

1.4

—

(3015399) Transferrin receptor.soluble [Mass/volume] in Serum or Plasma

2.98

1.36

3.0

1.7

1.6

3.0

mg/l

—

(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection

3.15

1.30

4.0

1.4

—

(40768797) Stomach Pathology biopsy report

2.98

1.23

1.6

1.3

—

(3006315) Basophils [#/volume] in Blood

2.44

1.04

23.1

5.9

0.0

e9/l

0.35

(3001604) Monocytes [#/volume] in Blood

2.44

1.04

23.1

5.9

0.6

0.5

e9/l

0.32

(3013115) Eosinophils [#/volume] in Blood

2.29

1.02

25.1

5.8

0.6

0.2

e9/l

0.71

(3032080) INR in Blood by Coagulation assay

2.22

0.98

11.6

6.0

—

1.2

—

(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count

2.15

0.91

5.0

2.6

—

(3033658) Prothrombin time (PT) actual/Normal

2.15

0.82

4.4

2.9

96.9

91.9

—

(36304419) Bacteria [Presence] in Urine

2.05

0.75

5.0

2.7

—

(3015377) Calcium [Moles/volume] in Serum or Plasma

2.05

0.75

3.1

3.0

2.3

2.4

mmol/l

—

(3015736) pH of Urine

2.08

0.73

2.1

2.7

—

(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture

1.96

0.69

1.0

1.4

—

(3009261) Glucose [Presence] in Urine by Test strip

1.79

0.62

2.1

2.7

—

0.0

—

(3021601) Nitrite [Presence] in Urine by Test strip

1.79

0.62

3.6

4.0

—

0.0

—

(3035350) Ketones [Presence] in Urine by Test strip

1.75

0.61

2.0

2.6

—

0.0

—

(3044640) Blood type and Crossmatch panel - Blood

1.85

0.57

2.3

—

(3021589) Normoblasts [#/volume] in Blood

1.82

0.52

18.1

7.1

0.0

e9/l

—

(3051714) Fibrin D-dimer FEU [Mass/volume] in Platelet poor plasma

1.81

0.47

1.8

1.7

0.8

mg/l

—

(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep

1.68

0.45

1.4

1.2

—

(1761868) Lipid panel - Serum or Plasma

1.55

0.35

2.4

2.3

—

(3013650) Neutrophils [#/volume] in Blood by Automated count

1.56

0.32

29.1

8.7

4.2

3.8

e9/l

0.25

(46236098) ABO and Rh group [Type] in Blood by Confirmatory method

1.52

0.26

2.2

2.4

—

(3009508) Creatinine [Moles/volume] in Urine

1.42

0.26

4.0

3.3

8.7

7.9

mmol/l

—

(3011397) Hemoglobin [Presence] in Urine by Test strip

1.37

0.25

1.8

3.0

—

(3003694) ABO and Rh group [Type] in Blood

1.32

0.23

1.5

1.4

—

(3020961) Endomysium IgA Ab [Titer] in Serum

0.00

0.22

0.0

1.2

—

(40763531) Fetal Nuchal fold [Multiple of the median] Thickness adjusted for maternal weight

0.00

0.22

0.0

1.4

—

(3008714) Choriogonadotropin [Multiple of the median] adjusted in Serum or Plasma

0.00

0.22

0.0

1.4

—

(3022621) pH of Urine by Test strip

0.00

0.22

0.0

1.6

—

(3005033) Fetal Nuchal fold Thickness US

0.00

0.22

0.0

1.4

—

(40761536) Microorganisms panel - Urine sediment

0.00

0.22

0.0

2.0

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

0.22

0.0

1.4

—

(3049207) Fetal Trisomy 21 risk [Likelihood] Based on maternal age

0.00

0.22

0.0

1.4

—

(46235831) Pregnancy associated plasma protein A [Multiple of the median] adjusted in Serum or Plasma

0.00

0.22

0.0

1.4

—

(46236952) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (MDRD)

0.00

0.22

0.0

4.3

—

79.5

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

0.21

0.0

1.5

—

(40768804) Tissue Pathology biopsy report

1.35

0.21

1.4

1.8

—

(3019284) Hepatitis B virus surface Ag [Presence] in Serum

1.22

0.11

1.4

1.7

—

(3001079) Blood group antibody screen [Presence] in Serum or Plasma

0.83

0.09

5.1

3.5

—

(3044889) 12 lead EKG panel

1.25

0.09

3.1

3.0

—

(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection

106

1.08

0.00

4.0

3.3

—

(3000855) Microscopic observation [Identifier] in Vaginal fluid by Gram stain

0.00

0.0

1.2

—

(3029511) Human papilloma virus DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.0

—

(40758310) Human epididymis protein 4 [Moles/volume] in Serum or Plasma

0.00

0.0

1.4

—

58.0

—

(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip

0.91

0.00

2.0

2.3

—

(3015816) F5 gene p.Arg506Gln [Presence] in Blood or Tissue by Molecular genetics method

0.00

0.0

1.0

—

(3037756) Immunofixation for Serum or Plasma

0.00

0.0

1.7

—

(3000515) Antithrombin actual/normal in Platelet poor plasma by Chromogenic method

0.00

0.0

1.2

—

106.4

—

(36032419) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Immunoassay

0.00

0.0

4.0

—

(3010521) Mycoplasma pneumoniae IgM Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.0

—

(3041096) Erythrocytes [Presence] in Urine by Automated

0.95

0.00

2.2

1.9

—

(3045414) Leukocytes [Presence] in Urine

0.00

0.0

1.7

—

(46235355) HIV 1 and 2 tests - Meaningful Use set

0.90

0.00

1.6

1.9

—

(3021387) Prolactin [Units/volume] in Serum or Plasma

0.00

0.0

1.2

—

243.7

—

(3013527) Hepatitis B virus core IgM Ab [Presence] in Serum

0.00

0.0

1.3

—

(3000330) Specific gravity of Urine by Test strip

0.00

0.0

2.3

—

(40761535) Cells panel - Urine sediment

0.00

0.0

2.8

—

(3001019) Free T4 and TSH panel - Serum or Plasma

0.00

0.0

1.1

—

(4034850)

0.00

0.0

4.8

—

(3023939) Sjogrens syndrome-A extractable nuclear Ab [Units/volume] in Serum

0.00

0.0

1.0

—

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]

rg [CI]

Hits

Coloc Hits

FinRegistry

FinnGen

FinRegistry

FinnGen

Loading data

Hyperimmunoglobulin E [IgE] syndrome

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

1. Apply sex-specific rule

2. Check conditions

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

4. Check minimum number of events

5. Include endpoints

6. Filter based on genotype QC (FinnGen only)

Similar endpoints

Case counts by codes

Summary Statistics

-FinRegistry-

Key figures

-FinnGen-

Key figures

-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

CodeWAS (R11)

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints