Table 1 Classification of IEI (IUIS2019)¹

Table 1

Immunodeficiencies affecting cellular and humoral immunity

Severe combined immunodeficiency (SCID)

IKZF1 deficiency (dominant negative)

Table 2

Combined immunodeficiencies with associated or syndromic features

Wiskott-Aldrich syndrome (WAS)

Hyper-IgE syndrome (HIE)

IL6 signal transducer (IL6ST) deficiency (HIE)

Table 3

Predominantly antibody deficiencies

X-linked agammaglobulinemia (XLA)

Common variable immunodeficiency (CVID)

SLC39A7 (ZIP7) deficiency (B cell deficiency)

Table 4

Diseases of immune dysregulation

Autoimmune polyglandular syndrome (APS)

Autoimmune lymphoproliferative syndrome (ALPS)

TGFB1 deficiency (colitis)

Table 5

Congenital defects of phagocyte number or function

Chronic granulomatous disease (CGD)

CYBC1 deficiency (CGD)

Table 6

Defects in intrinsic and innate immunity

Chronic mucocutaneous candidiasis disease (CMCD)

IRF4 deficiency, IRF9 deficiency (severe viral infection)

Table 7

Autoinflammatory disorders

Familial Mediterranean fever (FMF)

DNASE2 deficiency, OAS1 deficiency

Table 8

Complement deficiencies

Hereditary angioedema (HAE)

Table 9

Bone marrow failure

Dyskeratosis congenita

Table 10

Phenocopies of inborn errors of immunity

Ras-associated ALPS like disorder (RALD)

Good syndrome