Trait: Immunodeficiency

Trait Information
Identifier HP_0002721
Description Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. [PMID: 20042227]
Trait category
Other trait
Synonyms 2 synonyms
  • Decreased immune function
  • Immune deficiency

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS018856
(TPMI_279_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Disorders involving the immune mechanism Immunodeficiency 12
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018856/ScoringFiles/PGS018856.txt.gz
PGS018857
(TPMI_279_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Disorders involving the immune mechanism Immunodeficiency 262,507
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018857/ScoringFiles/PGS018857.txt.gz
PGS018858
(TPMI_279_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Disorders involving the immune mechanism Immunodeficiency 460,806
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018858/ScoringFiles/PGS018858.txt.gz
PGS018859
(TPMI_279_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Disorders involving the immune mechanism Immunodeficiency 983,827
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018859/ScoringFiles/PGS018859.txt.gz
PGS018860
(TPMI_279_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Disorders involving the immune mechanism Immunodeficiency 947,318
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018860/ScoringFiles/PGS018860.txt.gz
PGS018861
(TPMI_279.8_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other specified disorders involving the immune mechanism Immunodeficiency 32,186
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018861/ScoringFiles/PGS018861.txt.gz
PGS018862
(TPMI_279.8_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other specified disorders involving the immune mechanism Immunodeficiency 939,888
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018862/ScoringFiles/PGS018862.txt.gz
PGS018863
(TPMI_279.8_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other specified disorders involving the immune mechanism Immunodeficiency 472,247
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018863/ScoringFiles/PGS018863.txt.gz
PGS018864
(TPMI_279.8_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other specified disorders involving the immune mechanism Immunodeficiency 983,825
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018864/ScoringFiles/PGS018864.txt.gz
PGS018865
(TPMI_279.8_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other specified disorders involving the immune mechanism Immunodeficiency 976,350
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018865/ScoringFiles/PGS018865.txt.gz

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance
Metric ID (PPM) 		Evaluated Score PGS Sample Set ID
(PSS) 		Performance Source Trait PGS Effect Sizes
(per SD change) 		Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM037038 PGS018856
(TPMI_279_Lassosum2)
 PSS012764|
East Asian Ancestry|
19,746 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Disorders involving the immune mechanism — AUROC: 0.70218 R²: 0.05581 sex, age, array, PCs 1-10 —
PPM037039 PGS018857
(TPMI_279_LDpred2)
 PSS012763|
East Asian Ancestry|
19,746 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Disorders involving the immune mechanism — AUROC: 0.70238 R²: 0.05576 sex, age, array, PCs 1-10 —
PPM037040 PGS018858
(TPMI_279_MegaPRS)
 PSS012765|
East Asian Ancestry|
19,746 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Disorders involving the immune mechanism — AUROC: 0.70236 R²: 0.05578 sex, age, array, PCs 1-10 —
PPM037041 PGS018859
(TPMI_279_PRS-CS)
 PSS012766|
East Asian Ancestry|
19,746 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Disorders involving the immune mechanism — AUROC: 0.70249 R²: 0.05583 sex, age, array, PCs 1-10 —
PPM037042 PGS018860
(TPMI_279_SBayesR)
 PSS012767|
East Asian Ancestry|
19,746 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Disorders involving the immune mechanism — AUROC: 0.70234 R²: 0.05576 sex, age, array, PCs 1-10 —
PPM037043 PGS018861
(TPMI_279.8_Lassosum2)
 PSS012759|
East Asian Ancestry|
19,395 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other specified disorders involving the immune mechanism — AUROC: 0.71734 R²: 0.02825 sex, age, array, PCs 1-10 —
PPM037044 PGS018862
(TPMI_279.8_LDpred2)
 PSS012758|
East Asian Ancestry|
19,395 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other specified disorders involving the immune mechanism — AUROC: 0.71224 R²: 0.02706 sex, age, array, PCs 1-10 —
PPM037045 PGS018863
(TPMI_279.8_MegaPRS)
 PSS012760|
East Asian Ancestry|
19,395 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other specified disorders involving the immune mechanism — AUROC: 0.71248 R²: 0.02709 sex, age, array, PCs 1-10 —
PPM037046 PGS018864
(TPMI_279.8_PRS-CS)
 PSS012761|
East Asian Ancestry|
19,395 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other specified disorders involving the immune mechanism — AUROC: 0.71398 R²: 0.02747 sex, age, array, PCs 1-10 —
PPM037047 PGS018865
(TPMI_279.8_SBayesR)
 PSS012762|
East Asian Ancestry|
19,395 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other specified disorders involving the immune mechanism — AUROC: 0.71794 R²: 0.02814 sex, age, array, PCs 1-10 —

Evaluated Samples

PGS Sample Set ID
(PSS) 		Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS012765 279, 795.7, 795.8,D80.0, D80.1, D80.2, D80.3, D80.4, D80.5, D80.6, D80.7, D80.8, D80.9, D81, D82.0, D82.1, D82.2, D82.3, D82.4, D82.8, D82.9, D83, D84.0, D84.8, D84.9, D89.3, D89.82, D89.89, D89.9, R76.0, R76.8, R76.9 —
[
  • 705 cases
  • , 19,041 controls
]
,
46.21 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012766 279, 795.7, 795.8,D80.0, D80.1, D80.2, D80.3, D80.4, D80.5, D80.6, D80.7, D80.8, D80.9, D81, D82.0, D82.1, D82.2, D82.3, D82.4, D82.8, D82.9, D83, D84.0, D84.8, D84.9, D89.3, D89.82, D89.89, D89.9, R76.0, R76.8, R76.9 —
[
  • 705 cases
  • , 19,041 controls
]
,
46.21 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012767 279, 795.7, 795.8,D80.0, D80.1, D80.2, D80.3, D80.4, D80.5, D80.6, D80.7, D80.8, D80.9, D81, D82.0, D82.1, D82.2, D82.3, D82.4, D82.8, D82.9, D83, D84.0, D84.8, D84.9, D89.3, D89.82, D89.89, D89.9, R76.0, R76.8, R76.9 —
[
  • 705 cases
  • , 19,041 controls
]
,
46.21 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012758 279.8,D82.2, D82.3, D82.4, D82.8, D82.9, D84.0, D89.3, D89.89 —
[
  • 354 cases
  • , 19,041 controls
]
,
46.48 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012759 279.8,D82.2, D82.3, D82.4, D82.8, D82.9, D84.0, D89.3, D89.89 —
[
  • 354 cases
  • , 19,041 controls
]
,
46.48 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012760 279.8,D82.2, D82.3, D82.4, D82.8, D82.9, D84.0, D89.3, D89.89 —
[
  • 354 cases
  • , 19,041 controls
]
,
46.48 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012761 279.8,D82.2, D82.3, D82.4, D82.8, D82.9, D84.0, D89.3, D89.89 —
[
  • 354 cases
  • , 19,041 controls
]
,
46.48 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012762 279.8,D82.2, D82.3, D82.4, D82.8, D82.9, D84.0, D89.3, D89.89 —
[
  • 354 cases
  • , 19,041 controls
]
,
46.48 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012763 279, 795.7, 795.8,D80.0, D80.1, D80.2, D80.3, D80.4, D80.5, D80.6, D80.7, D80.8, D80.9, D81, D82.0, D82.1, D82.2, D82.3, D82.4, D82.8, D82.9, D83, D84.0, D84.8, D84.9, D89.3, D89.82, D89.89, D89.9, R76.0, R76.8, R76.9 —
[
  • 705 cases
  • , 19,041 controls
]
,
46.21 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012764 279, 795.7, 795.8,D80.0, D80.1, D80.2, D80.3, D80.4, D80.5, D80.6, D80.7, D80.8, D80.9, D81, D82.0, D82.1, D82.2, D82.3, D82.4, D82.8, D82.9, D83, D84.0, D84.8, D84.9, D89.3, D89.82, D89.89, D89.9, R76.0, R76.8, R76.9 —
[
  • 705 cases
  • , 19,041 controls
]
,
46.21 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —