Activated phosphoinositide 3-kinase (PI3K) delta syndrome (APDS) is an ultrarare genetic disorder characterized by overlapping immunodeficiency and immune dysregulation. Its diagnosis poses challenges owing to its clinical similarities with other inborn errors of immunity (IEIs), compounded by the absence of targeted treatments in today's medical landscape. The standard approach involves symptom management, reducing infection through immunoglobulin replacement therapy and prophylactic antimicrobials, and treating immune dysregulation with immunomodulators. This approach considerably hampers effective management of APDS, as the diverse nature of the disease necessitates a personalized strategy, in which the advantages and risks of immunosuppression are weighed against the potential for recurrent infections and lymphoproliferative complications. To address these challenges, a group of Spanish experts in the management of IEIs, including APDS, collaborated to develop Delphi-based consensus recommendations. The primary goal of the initiative was to offer guidance on various aspects of this complex disease, marking a pioneering effort in Europe. The consensus aims to facilitate early diagnosis and provide clues for individual patient-based decisions that could favor balanced risk-benefit estimations for treatment.
Keywords: APDS; IEI; PI3k; Personalized medicine; Recommendations.