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.']
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
- |
4. Check minimum number of eventsNone |
- |
5. Include endpoints |
221 |
6. Filter based on genotype QC (FinnGen only) |
221 |
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
↥List of similar endpoints to Common variable immunodeficiency based on the number of shared cases.
Similar with more cases:
- Immunodeficiencies
- Certain disorders involving the immune mechanism
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
- Any operation in hilmo
- Any event in hilmo or specialist outpatient
Similar with less cases:
- Other or unspecified common variable immunodeficiency
- Common variable immunodeficiency with predominant abnormalities of B-cell numbers and function
- Common variable immunodeficiency with predominant abnormalities of T-cell numbers and function
- Common variable immunodeficiency with autoantibodies to B- or T-cells
Case counts by codes
↥Summary Statistics
↥-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 | 221 | 140 | 81 |
Unadjusted period prevalence (%) | 0.04 | 0.05 | 0.04 |
Median age at first event (years) | 48.61 | 49.70 | 46.73 |
-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
-FinnGen-
Cumulative Incidence Function
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.
Matched cohort
- Matched cases
- 201
- Matched controls
- 2009
LabWAS
↥Mortality – FinRegistry
↥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
↥Index endpoint: D3_CVID – Common variable immunodeficiency
GWS hits: -