Primary Immune Deficiency Diseases

Primary Immune Deficiency Diseases is a topic covered in the Harrison's Manual of Medicine.

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Primary immunodeficiencies are genetic diseases that can involve all possible aspects of immune responses, from innate through adaptive, as well as cell differentiation, effector function, and immune regulation (Table 157-1). The consequences of primary immunodeficiencies vary widely as a function of the molecules that are defective and include vulnerability to infection by pathogenic and opportunistic infection, immunopathologic responses such as allergy, lymphoproliferations, and autoimmunity, and increased risk of cancers. The locations and sites of infection and the causal microorganisms often aid the physician in diagnosis.

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


IgA deficiency

Regulatory Defects

• Innate immunity


• Adaptive immunity

Autoinflammatory syndromes (outside the scope of this chapter)

Severe colitis



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.

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