Common variable immunodeficiency with predominant abnormalities of B-cell numbers and function

D3_CVID_BCELL

obsolete_common variable immunodeficiency: ['A hypogammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells. Patients with common variable immunodeficiency have marked reduction in serum levels of both immunoglobulin G (IgG) and immunoglobulin A (IgA); about half of these patients also have reduced immunoglobulin M (IgM).', 'A primary immunodeficiency characterized by low levels or absence of all the immunoglobulin classes and lack of B-lymphocytes or plasma cells. It results in recurrent bacterial infections. Complications include autoimmune phenomena and cancer development.', 'Heterogeneous group of immunodeficiency syndromes characterized by hypogammaglobulinemia of most isotypes, variable B-cell defects, and the presence of recurrent bacterial infections.']

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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 D83.0
  • Cause of death: ICD-10 D83.0

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

79

4. Check minimum number of events

None

79

5. Include endpoints

None

79

6. Filter based on genotype QC (FinnGen only)

77

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 D83
Name in latin Deficientia immunalis variabilis communis praecipue cum abnormalitatibus numeri et functionis cellularum B

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 312 164 146
Only index persons 287 154 133
Unadjusted period prevalence (%)
Whole population 0.00 0.00 0.00
Only index persons 0.01 0.01 0.01
Median age at first event (years)
Whole population 49.79 49.97 49.50
Only index persons 47.93 48.90 46.80

-FinnGen-

Key figures

All Female Male
Number of individuals 77 47 30
Unadjusted period prevalence (%) 0.02 0.02 0.02
Median age at first event (years) 46.82 47.68 45.46

-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

No data

Mortality – FinRegistry

Association

Association between endpoint D3_CVID_BCELL and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have D3_CVID_BCELL.

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_CVID_BCELL – Common variable immunodeficiency with predominant abnormalities of B-cell numbers and function

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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