IUIS Primary Immunodeficiency Classification

Classification of inborn errors of immunity based on the International Union of Immunological Societies (IUIS) Expert Committee classification. This is the gold-standard expert nosology for primary immunodeficiencies, updated biennially. Reference: Tangye et al. J Clin Immunol (2022) - IUIS 2022 Update

Schema enum: IUISCategoryEnum Schema source: https://w3id.org/monarch-initiative/dismech/classifications/iuis_immunodeficiency

Schema Enum Description

IUIS classification tables for inborn errors of immunity (IEI). Based on IUIS 2022 phenotypic classification.

combined immunodeficiency term

Table 1 - Immunodeficiencies affecting cellular and humoral immunity (SCID, CID, Omenn)
combined immunodeficiency with syndromic features

Table 2 - CID with associated or syndromic features (WAS, AT, DiGeorge, CHARGE)
predominantly antibody deficiency

Table 3 - Predominantly antibody deficiencies (XLA, CVID, selective Ig deficiency, hyper-IgM)
immune dysregulation

Table 4 - Diseases of immune dysregulation (HLH, ALPS, IPEX, APECED)
phagocyte defect

Table 5 - Congenital defects of phagocyte number or function (SCN, CGD, LAD)
innate immunity defect

Table 6 - Defects in intrinsic and innate immunity (MSMD, HSE susceptibility, CMC)
autoinflammatory syndrome term

Table 7 - Autoinflammatory disorders (FMF, CAPS, TRAPS, HIDS, interferonopathies)
complement deficiency term

Table 8 - Complement deficiencies (C1-C9, MBL, factor H/I/B, properdin)
bone marrow failure

Table 9 - Bone marrow failure syndromes (Fanconi, DKC, SDS, DBA)
phenocopy of IEI

Table 10 - Phenocopies of IEI (somatic mutations, autoantibodies to cytokines)