Primary antibody deficiencies: recognition, clinical diagnosis and referral of patients

Abstract

The primary antibody deficiency syndromes are a rare group of immunodeficiencies where 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 survival outcomes in this patient group.