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

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
  • 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

201

6. Filter based on genotype QC (FinnGen only)

197

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 Similar with more cases:

Venn diagram with a set fully inside an highlighted set Similar with less cases:

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 197 125 72
Unadjusted period prevalence (%) 0.04 0.05 0.04
Median age at first event (years) 49.01 50.38 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

No data

Mortality – FinRegistry

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Association

Association between endpoint D3_CVID and mortality.

Females

Parameter HR [95% CI] p-value
D3_CVID 3.228 [2.32, 4.48] < 0.001
Birth year 0.996 [0.99, 1.0] 0.337

During the follow-up period (1.1.1998 — 31.12.2019), 106 out of 476 females with D3_CVID died.

Males

Parameter HR [95% CI] p-value
D3_CVID 3.026 [2.02, 4.54] < 0.001
Birth year 0.983 [0.97, 0.99] < 0.001

During the follow-up period (1.1.1998 — 31.12.2019), 104 out of 347 males with D3_CVID died.

Mortality risk

Mortality risk for people of age

years, who have D3_CVID.

N-year risk Females Males
1 0.287% 0.681%
5 2.034% 3.255%
10 5.02% 7.718%
15 8.881% 14.648%
20 15.33% 23.297%

Relationships between endpoints

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Index endpoint: D3_CVID – Common variable immunodeficiency

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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