Primary immunodeficiencies

pdfASCIA Fast Facts - Primary Immunodeficiencies112.24 KB

  1. primary immunodeficienciesPrimary immunodeficiencies are a group of more than 150 potentially serious disorders that can lead to recurrent infections or swellings. If the infections or swellings are severe these disorders can be life threatening.
  1. Primary immunodeficiencies are caused by defects in the genes that control the immune system, and are therefore usually inherited. They are not related to AIDS (acquired immunodeficiency syndrome) which is due to infection with human immunodeficiency virus (HIV).
  1. Whilst many primary immunodeficiencies appear in childhood, some emerge for the first time in adulthood. Research has led to improved therapies that can lead to a better and longer life. However, misdiagnosis or delayed diagnosis in children or adults can result in delayed treatment and complications that may be life threatening.
  1. Primary immunodeficiencies can be grouped according to what part of the immune system is affected:
  • Antibody deficiencies – such as Common Variable Immunodeficiency (CVID)
  • Combined immune deficiencies – such as X-linked Severe Combined Immunodeficiency (SCID)
  • Complement deficiencies – such as C2 Deficiency and Hereditary Angioedema (HAE)
  • Phagocytic cell deficiencies – such as Chronic Granulomatous Disease (CGD) 
  1. One of the most effective and most commonly used treatments for some primary immunodeficiency diseases is immunoglobulin replacement therapy (IRT) to replace antibody levels. IRT is either injected into the veins using intravenous immunoglobulin (IVIG) about once a month, or administered at home by injections under the skin using subcutaneous immunoglobulin (SCIG). 
  1. Other treatment options for primary immunodeficiency diseases include antibiotics, haematopoeitic stem cell transplants (HSCT), immunomodulation, Icatibant and C1 Inhibitor concentrate.

For more information visit www.allergy.org.au/immunodeficiency  

AusPIPS www.auspips.org.au, HAE Australasia www.haeaustralasia.org.au, IDFA www.idfa.org.au and IDFNZ www.idfnz.org.nz  are patient support organisations that offer updates and advice for people with primary immunodeficiencies.

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This document has been developed and peer reviewed by ASCIA members and is based on expert opinion and the available published literature at the time of review. Information contained in this document is not intended to replace medical advice and any questions regarding a medical diagnosis or treatment should be directed to a medical practitioner. Development of this document is not funded by any commercial sources and is not influenced by commercial organisations.

Content updated October 2018

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