Primary Immunodeficiencies

pdfASCIA Fast Facts Primary Immunodeficiencies 2019393.4 KB

  1. Primary immunodeficienciesPrimary immunodeficiencies (PIDs) are a group of more than 400 potentially serious disorders that can lead to frequent or severe infections, swellings and autoimmune problems. 
  1. PIDs can be caused by defects in the genes that control the immune system, and may be inherited. PIDs are different to AIDS (acquired immunodeficiency syndrome) that is due to human immunodeficiency virus (HIV).
  1. PID symptoms often appear in childhood, but some can first appear in adults. Research and advances in therapies have resulted in improved health and a longer life for people with PIDs. Early diagnises of PIDs is important, since delayed treatment can result in complications, which may be life threatening.
  1. PIDs can be grouped according to what part of the immune system is affected:
  • Antibody deficiencies such as common variable immunodeficiency (CVID) and X-linked agammaglobulinaemia.
  • Combined immune deficiencies such as severe combined immunodeficiency (SCID).
  • Phagocytic cell deficiencies such as chronic granulocatous disease (CGD).
  • Immune dysregulation such as IPEX, APECED, ALPS and autoinflammatory disorders.
  • Complement deficiencies such as hereditary angioedema (HAE) 
  1. Immunoglobulin replacement therapy (IRT)is one of the most effective and commonly used treatments for some PIDs. IRT can be given using intravenous immunoglobulin (IVIG) injected into the veins, or given at home using subcutaneous immunoglobulin (SCIG) that is injected under the skin. 
  1. Other treatment options for PIDs include antibiotics, immunomodulation, haematopoeitic stem cell transplants (HSCT) and HAE treatments.

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Content updated March 2019

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