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Primary immunodeficiency 

Primary immunodeficiency
Primary immunodeficiency

Simon M. Fox

, Angela M. Minassian

, Thomas Rawlinson

, and Brian J. Angus

Page of

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date: 08 August 2020

Primary immunodeficiency disorders (PIDs) consist of a group of genetically determined conditions that result in a spectrum of immunodeficiency, autoimmunity, and malignancy, ranging from the complete absence of a functioning immune system to very specific defects in the immune response. While the more severe forms usually present in childhood, PIDs can present at any age. There are now in excess of 300 PIDs recognized, and the number is expanding. While individual conditions are rare, in combination, PIDs are not rare occurrences with an estimated 1:2000 to 1:10,000 individuals affected. Although the majority of individuals with known PIDs are managed in specialist centres, there is often a significant delay in diagnosis due to lack of awareness in non-specialists. Early diagnosis is important in order to reduce end-organ damage and to facilitate genetic counselling if necessary. The International Union of Immunological Societies has categorized PIDs into nine groups based on phenotypic features.

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