Common variable immunodeficiency

D3_CVID

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

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Endpoint definition steps

FinnGen

Phenotype data

429209

1. Apply sex-specific rule

None

429209

2. Check conditions

None

429209

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

Registry filters:

  • Hospital discharge: ICD-10 — D83
  • Cause of death: ICD-10 — D83

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

-

4. Check minimum number of events

None

-

5. Include endpoints

188

6. Filter based on genotype QC (FinnGen only)

184

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 variabilis communis

Similar endpoints

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List of similar endpoints to Common variable immunodeficiency based on the number of shared cases.

Venn diagram with an highlighted set fully inside another set Broader endpoints:

Venn diagram with a set fully inside an highlighted set Narrower endpoints:

Case counts by codes

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FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

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-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 938 523 407
Only index persons 837 484 353
Unadjusted period prevalence (%)
Whole population 0.01 0.01 0.01
Only index persons 0.02 0.02 0.01
Median age at first event (years)
Whole population 50.88 51.24 50.30
Only index persons 49.07 50.37 47.29

-FinnGen-

Key figures

All Female Male
Number of individuals 184 116 68
Unadjusted period prevalence (%) 0.05 0.05 0.04
Median age at first event (years) 48.57 49.70 46.64

-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

Mortality – FinRegistry

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Relationships between endpoints

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Index endpoint: D3_CVID – Common variable immunodeficiency

GWS hits: -

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