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Table 157-1

Classification of Primary Immune Deficiency Diseases

Deficiencies of the Innate Immune System
  • Phagocytic cells
    • - Impaired production: SCN
    • - Asplenia
    • - Impaired adhesion: LAD
    • - Impaired killing: 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

SCIDs, DiGeorge syndrome

Severe combined immunodeficiencies

Hyper-IgE syndrome (autosomal dominant)

DOK8 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

CVID

IgA deficiency

Regulatory Defects

• Innate immunity

• Adaptive immunity

Autoinflammatory syndromes (outside the scope of this chapter)

Severe colitis

HLH

ALPS

Autoimmunity and inflammatory diseases (IPEX, APECED)

Abbreviations: ALPS, autoimmune lymphoproliferation syndrome; APECED, autoimmune polyendocrinopathy candidiasis ectodermal dysplasia; AR, autosomal recessive; CGD, chronic granulomatous disease; CVID, common variable immunodeficiency; HLH, hemophagocytic lymphohistiocytosis; IPEX, immunodysregulation polyendocrinopathy enteropathy X-linked syndrome; LAD, leukocyte adhesion deficiency; SCIDs, severe combined immune deficiencies; SCN, severe congenital neutropenia; XL, X-linked.