No definition available.
Severe combined immunodeficiency [SCID] with reticular dysgenesis
D3_SCIDA
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
473681 |
1. Apply sex-specific ruleNone |
473681 |
2. Check conditionsNone |
473681 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
98 |
4. Check minimum number of eventsNone |
98 |
5. Include endpointsNone |
98 |
6. Filter based on genotype QC (FinnGen only) |
95 |
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
D81
Name in latin
Deficientia immunalis mixta gravis cum dysgenesia reticulari
Similar endpoints
↥List of similar endpoints to
Severe combined immunodeficiency [SCID] with reticular dysgenesis
based on the number of shared cases.
Similar with more cases:
- Combined immunodeficiencies
- 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 | 872 | 485 | 380 |
| Only index persons | 752 | 436 | 316 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.01 | 0.01 | 0.01 |
| Only index persons | 0.01 | 0.02 | 0.01 |
| Median age at first event (years) | |||
| Whole population | 54.06 | 50.10 | 58.88 |
| Only index persons | 51.47 | 48.96 | 54.94 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 95 | 55 | 40 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.02 |
| Median age at first event (years) | 52.83 | 46.40 | 61.68 |
-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
↥Association
Association between endpoint D3_SCIDA and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| D3_SCIDA | 1.58 [1.22, 2.05] | < 0.001 |
| Birth year | 0.998 [0.99, 1.01] | 0.713 |
During the follow-up period (1.1.1998 — 31.12.2019), 107 out of 410 females with D3_SCIDA died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| D3_SCIDA | 2.004 [1.5, 2.67] | < 0.001 |
| Birth year | 0.989 [0.98, 1.0] | 0.019 |
During the follow-up period (1.1.1998 — 31.12.2019), 131 out of 318 males with D3_SCIDA died.
Mortality risk
Mortality risk for people of age
years, who have D3_SCIDA.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.107% | 0.413% |
| 5 | 0.81% | 2.358% |
| 10 | 2.497% | 6.308% |
| 15 | 4.631% | 11.351% |
| 20 | 8.111% | 18.92% |
Relationships between endpoints
↥Index endpoint: D3_SCIDA – Severe combined immunodeficiency [SCID] with reticular dysgenesis
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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