Enum: IUISCategoryEnum
IUIS classification tables for inborn errors of immunity (IEI). Based on IUIS 2022 phenotypic classification.
URI: MONDO:0003778
Permissible Values
| Value | Meaning | Description |
|---|---|---|
| combined immunodeficiency | MONDO:0015131 | Table 1 - Immunodeficiencies affecting cellular and humoral immunity (SCID, C... |
| combined immunodeficiency with syndromic features | None | Table 2 - CID with associated or syndromic features (WAS, AT, DiGeorge, CHARG... |
| predominantly antibody deficiency | None | Table 3 - Predominantly antibody deficiencies (XLA, CVID, selective Ig defici... |
| immune dysregulation | None | Table 4 - Diseases of immune dysregulation (HLH, ALPS, IPEX, APECED) |
| phagocyte defect | None | Table 5 - Congenital defects of phagocyte number or function (SCN, CGD, LAD) |
| innate immunity defect | None | Table 6 - Defects in intrinsic and innate immunity (MSMD, HSE susceptibility,... |
| autoinflammatory syndrome | MONDO:0019751 | Table 7 - Autoinflammatory disorders (FMF, CAPS, TRAPS, HIDS, interferonopath... |
| complement deficiency | MONDO:0003832 | Table 8 - Complement deficiencies (C1-C9, MBL, factor H/I/B, properdin) |
| bone marrow failure | None | Table 9 - Bone marrow failure syndromes (Fanconi, DKC, SDS, DBA) |
| phenocopy of IEI | None | Table 10 - Phenocopies of IEI (somatic mutations, autoantibodies to cytokines... |
Slots
| Name | Description |
|---|---|
| classification_value |
Identifier and Mapping Information
Schema Source
- from schema: https://w3id.org/monarch-initiative/dismech
LinkML Source
name: IUISCategoryEnum
description: IUIS classification tables for inborn errors of immunity (IEI). Based
on IUIS 2022 phenotypic classification.
from_schema: https://w3id.org/monarch-initiative/dismech
rank: 1000
enum_uri: MONDO:0003778
permissible_values:
combined immunodeficiency:
text: combined immunodeficiency
description: Table 1 - Immunodeficiencies affecting cellular and humoral immunity
(SCID, CID, Omenn)
meaning: MONDO:0015131
combined immunodeficiency with syndromic features:
text: combined immunodeficiency with syndromic features
description: Table 2 - CID with associated or syndromic features (WAS, AT, DiGeorge,
CHARGE)
predominantly antibody deficiency:
text: predominantly antibody deficiency
description: Table 3 - Predominantly antibody deficiencies (XLA, CVID, selective
Ig deficiency, hyper-IgM)
immune dysregulation:
text: immune dysregulation
description: Table 4 - Diseases of immune dysregulation (HLH, ALPS, IPEX, APECED)
phagocyte defect:
text: phagocyte defect
description: Table 5 - Congenital defects of phagocyte number or function (SCN,
CGD, LAD)
innate immunity defect:
text: innate immunity defect
description: Table 6 - Defects in intrinsic and innate immunity (MSMD, HSE susceptibility,
CMC)
autoinflammatory syndrome:
text: autoinflammatory syndrome
description: Table 7 - Autoinflammatory disorders (FMF, CAPS, TRAPS, HIDS, interferonopathies)
meaning: MONDO:0019751
complement deficiency:
text: complement deficiency
description: Table 8 - Complement deficiencies (C1-C9, MBL, factor H/I/B, properdin)
meaning: MONDO:0003832
bone marrow failure:
text: bone marrow failure
description: Table 9 - Bone marrow failure syndromes (Fanconi, DKC, SDS, DBA)
phenocopy of IEI:
text: phenocopy of IEI
description: Table 10 - Phenocopies of IEI (somatic mutations, autoantibodies
to cytokines)