Chapter 160: Primary Immune Deficiency Diseases
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 160-1). 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|
|Deficiencies of the adaptive immune system|
Severe combined immune deficiencies (SCIDs)
Hyper-IgE syndrome (autosomal dominant)
CD40 ligand deficiency
Ataxia-telangiectasia and other DNA repair deficiencies
XL and AR agammaglobulinemia
Common variable immunodeficiency (CVID)
Autoinflammatory syndromes (outside the scope of this chapter)
Hemophagocytic lymphohistiocytosis (HLH)
Autoimmune lymphoproliferation syndrome (ALPS)
Autoimmunity and inflammatory diseases (IPEX, APECED)
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