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. |
119 |
4. Check minimum number of eventsNone |
119 |
5. Include endpointsNone |
119 |
6. Filter based on genotype QC (FinnGen only) |
119 |
Control definitions (FinnGen only)
- Control exclude
- D3_IMMUNEMECHANISM
Extra metadata
- Level in the ICD hierarchy
- 4
- First used in FinnGen datafreeze
- DF2
Similar endpoints
↥List of similar endpoints to Other or unspecified common variable immunodeficiency based on the number of shared cases.
Similar with more cases:
- Common variable immunodeficiency
- 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
Similar with less cases:
None
Case counts by codes
↥Summary Statistics
↥-FinRegistry-
Key figures
All | Female | Male | |
---|---|---|---|
Number of individuals | |||
Whole population | 443 | 255 | 186 |
Only index persons | 415 | 243 | 172 |
Unadjusted period prevalence (%) | |||
Whole population | 0.01 | 0.01 | 0.01 |
Only index persons | 0.01 | 0.01 | 0.01 |
Median age at first event (years) | |||
Whole population | 46.95 | 48.76 | 44.63 |
Only index persons | 45.68 | 47.31 | 43.38 |
-FinnGen-
Key figures
All | Female | Male | |
---|---|---|---|
Number of individuals | 119 | 77 | 42 |
Unadjusted period prevalence (%) | 0.02 | 0.03 | 0.02 |
Median age at first event (years) | 47.58 | 48.76 | 45.42 |
-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
- 104
- Matched controls
- 1039
LabWAS
↥Mortality – FinRegistry
↥Association
Association between endpoint D3_CVIDNAS and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have D3_CVIDNAS.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_CVIDNAS – Other or unspecified common variable immunodeficiency
GWS hits: -