Summary of IUIS classification groups for inborn errors of immunity (primary immunodeficiencies)^[1-3]

IUIS classification group	IEI disease category	Number of genes*	Characteristics	Examples
I	Cellular and humoral immunodeficiencies	66	Recurrent viral, fungal, and bacterial infections Autoimmunity	SCID DOCK8 deficiency CD40L deficiency MHC I/II deficiency
II	Syndromic combined immunodeficiencies	69	Recurrent viral, fungal, and bacterial infections Autoimmunity Nonimmune features Dysmorphology	Hyper-IgE (STAT3) Wiskott-Aldrich syndrome Cartilage-hair hypoplasia 22q11.2 deletion syndrome NEMO deficiency
III	Antibody deficiencies	45	Recurrent bacterial sinopulmonary infections	X-linked (BTK) and autosomal recessive agammaglobulinemia Autosomal recessive hyper-IgM Selective IgA deficiency
IV	Immune dysregulatory diseases	52	Lymphoproliferation Autoimmunity Hemophagocytic lymphohistiocytosis	Chediak-Higashi syndrome Perforin deficiency ALPS STAT3 gain of function CTLA4 deficiency LRBA deficiency IL-10 deficiency
V	Phagocytic diseases	42	Severe bacterial infections of the skin, lungs, and lymph nodes Inflammatory bowel disease	Chronic granulomatous disease Leukocyte adhesion deficiency GATA2 deficiency Congenital neutropenias
VI	Innate immunodeficiencies	74	Invasive bacterial infections (sepsis, meningitis) often in the absence of fever Recurrent fungal, mycobacterial, and viral infections	IRAK4 and MyD88 deficiency STAT1 gain of function Interferon gamma receptor deficiency IRF7 deficiency TLR3 deficiency
VII	Autoinflammatory diseases	56	Recurrent fever, rash, arthritis/arthralgia Amyloidosis Inflammatory bowel disease	Familial Mediterranean fever Mevalonate kinase deficiency Muckle-Wells syndrome NLRP1 deficiency
VIII	Complement deficiencies	36	Disseminated neisserial infections Recurrent pyogenic infections SLE Atypical hemolytic uremic syndrome	Deficiency of complement components (C1 to C9) Properdin deficiency Factor D deficiency Factor H deficiency
IX	Bone marrow failure	44	Macrocytic anemia and other cytopenias Skeletal, nail, hair, and/or skin abnormalities	Fanconi anemia Dyskeratosis congenita
X	Phenocopies of primary immunodeficiencies	15	Various phenotypes	ALPS-SFAS (somatic mutations in TNFRSF6) Mucocutaneous candidiasis due to autoantibodies to IL-17 or IL-22 Mycobacterial infections due to autoantibodies to IL-6 Acquired angioedema due to autoantibodies to C1 inhibitor Severe, life-threatening infections with SARS-CoV-2 due to autoantibodies to type 1 interferons (IFN-alpha and IFN-omega)

Summary of the major classification groups in the 2022 IUIS report.^[3]

IUIS: International Union of Immunological Societies; IEI: inborn errors of immunity; SCID: severe combined immunodeficiency; DOCK8: dedicator of cytokinesis 8; CD40L: CD40 ligand; MHC: major histocompatibility complex; IgE: immunoglobulin E; STAT3: signal transducer and activator of transcription 3; NEMO: nuclear factor-kappa-B essential modifier; BTK: Bruton tyrosine kinase; IgM: immunoglobulin M; IgA: immunoglobulin A; ALPS: autoimmune lymphoproliferative syndrome; CTLA4: cytotoxic T lymphocyte-associated antigen 4; LRBA: lipopolysaccharide-responsive beige-like anchor; IL: interleukin; GATA2: GATA-binding protein 2; IRAK4: IL-1 receptor-associated kinase 4; MyD88: myeloid differentiation primary response protein 88; STAT1: signal transducer and activator of transcription 1; IRF7: interferon regulatory factor 7; TLR3: toll-like receptor 3; NLRP1: NLR family pyrin domain-containing 1; SLE: systemic lupus erythematosus; ALPS-SFAS: autoimmune lymphoproliferative syndrome due to somatic FAS mutation; TNFRSF6: tumor necrosis factor receptor superfamily member 6; SARS-CoV-2: severe acute respiratory syndrome coronavirus 2; IFN: interferon.

* Number of genes as of May 2022.

References:

Picard C, Bobby Gaspar H, Al-Herz W, et al. International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity. J Clin Immunol 2018; 38:96.
Yu JE, Orange JS, Demirdag YY. New primary immunodeficiency diseases: Context and future. Curr Opin Pediatr 2018; 30:806.
Tangye SG, Al-Herz W, Bousfiha A, et al. Human inborn errors of immunity: 2022 update on the classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol 2022; epub.

Graphic 121770 Version 3.0

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Summary of IUIS classification groups for inborn errors of immunity (primary immunodeficiencies)[1-3]

Summary of IUIS classification groups for inborn errors of immunity (primary immunodeficiencies)^[1-3]