Primary antibody deficiency syndromes.

PURPOSE OF REVIEW: The primary antibody deficiency syndromes are a rare group of disorders presenting at any age, with complex polygenic disorders, most commonly the common variable immunodeficiency disorders (CVIDs), predominating. With increasing patient survival on immunoglobulin therapy, there is an increasing focus on the complications of these disorders. Research into the cause of CVIDs has made use of the increased understanding of immune regulatory systems and B-cell signalling events and has made significant progress in the past 12 months. RECENT
FINDINGS: Prevalence data from different geographical regions have been supplemented by more detailed incidence data on primary antibody deficiencies, revealing trends in diagnosis and management. Continued exploration of the role of genetic variations in TACI in CVID populations has improved our understanding of possible pathogenic events. The key role of naturally occurring regulatory T cells in the development of immune dysregulation in CVIDs has become more apparent. The role of dysfunction of the innate immune system in pathogenesis of CVID has begun to emerge. Novel clinical presentations of these disorders continue to be described.
SUMMARY: The recent findings in these areas will allow more precise prognostic and diagnostic information to be available for individual patients. The challenge remains to separate primary disease-causing factors from secondary disease-modifying phenomena.