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Table 160-1

Classification of Primary Immune Deficiency Diseases

Deficiencies of the innate immune system
  • Phagocytic cells:
    • Impaired production: severe congenital neutropenia (SCN)
    • Asplenia
    • Impaired adhesion: leukocyte adhesion deficiency (LAD)
    • Impaired killing: chronic granulomatous disease (CGD)
  • Innate immunity receptors and signal transduction:
    • Defects in Toll-like receptor signaling
    • Mendelian susceptibility to mycobacterial disease
  • Complement deficiencies:
    • Classical, alternative, and lectin pathways
    • Lytic phase
Deficiencies of the adaptive immune system
  • T lymphocytes:
    • Impaired development
    • Impaired survival, migration, function

Severe combined immune deficiencies (SCIDs)

DiGeorge's syndrome

Combined immunodeficiencies

Hyper-IgE syndrome (autosomal dominant)

DOCK8 deficiency

CD40 ligand deficiency

Wiskott-Aldrich syndrome

Ataxia-telangiectasia and other DNA repair deficiencies

  • B lymphocytes:
    • Impaired development
    • Impaired function

XL and AR agammaglobulinemia

Hyper-IgM syndrome

Common variable immunodeficiency (CVID)

IgA deficiency

Regulatory defects
  • Innate immunity

  • Adaptive immunity

Autoinflammatory syndromes (outside the scope of this chapter)

Severe colitis

Hemophagocytic lymphohistiocytosis (HLH)

Autoimmune lymphoproliferation syndrome (ALPS)

Autoimmunity and inflammatory diseases (IPEX, APECED)

Abbreviations: APECED, autoimmune polyendocrinopathy candidiasis ectodermal dysplasia; AR, autosomal recessive; IPEX, immunodysregulation polyendocrinopathy enteropathy X-linked syndrome; XL, X-linked.