Immunodeficiency, Primary: Affecting the Adaptive Immune System

Abstract

Primary immunodeficiency (PID) is an intrinsic defect of the immune system. Patients with PID have increased susceptibility to recurrent and persistent infections, and they may also have autoimmune and cancer‐related symptoms. PIDs are mainly rare hereditary disorders of the immune system which often have serious consequences. Infections are the hallmarks of PIDs. Clinical descriptions have already been made for about 250 PIDs, for which approximately 200 genetic aetiologies have been described. There are several different mechanisms behind PIDs. Some PIDs affect T‐ or B‐cell functions, and when both cell types are affected, it leads to severe combined immunodeficiencies (SCIDs). Other PIDs affect major histocompatibility complex, antibody production, lymphocyte apoptosis, phagocytosis, complement cascade or the innate immune system. PIDs are a constantly growing group of mainly rare diseases that help to understand how the complex immune system is composed, acting and regulated.

Key Concepts

  • Adaptive immunity is a specific and long‐lasting response of lymphocytes to antigens.
  • Combined immunodeficiency affects both B and T cells.
  • Lymphocytes are white blood cells including B and T cells.
  • Signal transduction is a process by which a cell converts one kind of signal or stimulus into another. In a signalling cascade, an extracellular signal interacts with a cell surface receptor, which leads to a change in the level of a second messenger and ultimately a change in the cells functioning.

Keywords: adaptive immunity; immunodeficiency; immune system; B cell; T cell; signal transduction; immunoglobulin

Figure 1. Differentiation of B cells from stem cells. The cellular stages affected by PIDs are indicated by the placement of the factors. Antibody deficiency‐related genes/proteins are indicated.
Figure 2. Differentiation of T cells from stem cells. The cellular stages affected by PIDs are indicated by the placement of the factors.
Figure 3. Differentiation of B and T cells from stem cells. The cellular stages affected by combined PIDs are indicated by the placement of the factors.
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Further Reading

IDbases. http://structure.bmc.lu.se/idbase

Ochs HD, Smith CIE and Puck J (2013) Primary Immunodeficiency Diseases. A Molecular and Genetic Approach, 3rd edn. Oxford: Oxford University Press.

Samarghitean C, Väliaho J and Vihinen M (2007) IDR knowledge base for primary immunodeficiencies. Immunome Research 3: 6. Immunodeficiency Resource, http://structure.bmc.lu.se/idbase/idr

Sullivan KE and Stiehm ER (2014) Stiehm's Immune Deficiencies. Philadelphia, PA: Elsevier.

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Vihinen, Mauno(Sep 2015) Immunodeficiency, Primary: Affecting the Adaptive Immune System. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0001239.pub4]