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Primary antibody deficiencies

The primary antibody deficiency syndromes are a rare group of immunodeficiencies that cause a wide range of complications and increase the risk of life-threatening disease. Diagnostic delay remains common due to limited awareness of the existence and heterogeneity of their presenting features.

Referral for specialist assessment leads to earlier diagnosis and appropriate therapy to prevent or limit structural organ and tissue damage. Greater education of healthcare professionals is required to ensure prompt recognition and referral to specialists with expertise in the care of primary immunodeficiencies, especially since study of these rare conditions is a minor part of undergraduate and general postgraduate training. Greater awareness would lead to reduced morbidity, improved quality of life and better survival outcomes in this patient group.

The main objective of this guideline is to inform clinicians about the varied and frequently complex presentations of primary antibody deficiency syndromes and to emphasise the importance of early recognition and referral.

This guideline was also published in Clinical Medicine, volume 9 issue 6.