Primary antibody deficiency syndromes

This version was published on 1 March 2009

Ann Clin Biochem 2009;46:99-108
doi:10.1258/acb.2008.008175
© 2009 Association for Clinical Biochemistry

 

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Review Article


P Wood


Clinical Immunology Unit, St James’s University Hospital, Leeds LS9 7TF, UK


Corresponding author: P Wood. Email: Philip.wood{at}leedsth.nhs.uk

The primary antibody deficiency syndromes are a group of raredisorders characterized by an inability to produce clinicallyeffective immunoglobulin responses. Some of these disordersresult from genetic mutations in genes involved in B cell development,whereas others appear to be complex polygenic disorders. Theymost commonly present with recurrent infections due to encapsulatedbacteria, although in the most common antibody deficiency, CommonVariable Immunodeficiency, systemic and organ-specific autoimmunitycan be a presenting feature. Diagnostic delay in this groupof disorders remains a problem, and the laboratory has a vitalrole in the detection of abnormalities in immunoglobulin concentrationand function. It is critical to distinguish this group of disordersfrom secondary causes of hypogammaglobulinaemia, in particularlymphoid malignancy, and appropriate laboratory investigationsare of critical importance. Treatment of primary antibody deficienciesinvolves immunoglobulin replacement therapy, either via theintravenous or subcutaneous route. Patients remain at risk ofa wide variety of complications, not all linked to diagnosticdelay and inadequate therapy. In common variable immunodeficiency(CVID) in particular, patients remain at significantly increasedrisk of lymphoid malignancy, and regular clinical and laboratorymonitoring is required. This review aims to give an overviewof these conditions for the general reader, covering pathogenesis,clinical presentation, laboratory investigation, therapy andclinical management.


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