Primary immunodeficiency disease

Definition:

Primary immunodeficiency diseases (PIDs) are genetically determined disorders of the immune system resulting in greatly enhanced susceptibility to infectious disease, autoimmunity and malignancy. Many are associated with single gene defects, whereas others may be polygenic or may represent interactions of genetically determined characteristics with environmental or infectious stresses. There are more than 150 different disorders which have been described till date. PIDs are broadly classified as disorders of adaptive immunity (i.e., T-cell, B-cell or combined immunodeficiencies) or of innate immunity (e.g., phagocyte and complement disorders). Early diagnosis and treatment are imperative for preventing significant disease-associated morbidity.

References:

[1]. Alain Fischer, et al. Human primary immunodeficiency diseases. Immunity. 2007 Dec;27(6):835-45. [Content Brief]

[2]. Capucine Picard, et al. Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015. J Clin Immunol. 2015 Nov;35(8):696-726. [Content Brief]

[3]. Christine McCusker, et al. Primary immunodeficiency. Allergy Asthma Clin Immunol. 2011 Nov 10;7 Suppl 1(Suppl 1):S11. [Content Brief]

[4]. Francisco A Bonilla, et al. 12. Primary immunodeficiency diseases. J Allergy Clin Immunol. 2003 Feb;111(2 Suppl):S571-81. [Content Brief]

[5]. M Madkaikar, et al. Diagnostic approach to primary immunodeficiency disorders. Indian Pediatr. 2013 Jun 8;50(6):579-86. [Content Brief]

[6]. S E Turvey, et al. Primary immunodeficiency diseases: a practical guide for clinicians. Postgrad Med J. 2009 Dec;85(1010):660-6. [Content Brief]

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