Current screening approaches for antibody deficiency.

摘要: Purpose of review Diagnostic delay is a major problem for rare diseases including primary antibody deficiency (PAD). The aim this to discuss the opportunities and challenges current future screening approaches deficiency, reduce its impact on patients. (Figure included in full-text article.) Recent findings PAD known result increased morbidity, mortality, permanent functional impairment. Approaches prevent have been only partially successful may still be many years as clinical presentation highly variable at any age, making difficult. Patients often numerous healthcare encounters generating repeated cycles laboratory data before diagnosis made. Low immunoglobulin levels alterations tests not directly aimed measuring immunoglobulins. We describe these highlight growing evidence support using calculated globulin which part liver function test profile tool deficiency. Additional include embedded algorithms analyse generated by (e.g. infections, antibiotics, cytopenias), potentially combination with results such globulin, help bring forward patients whom has yet considered. Summary There strong case use Further work required integrate diagnostic hitherto unsuspected