Challenges in and ideas for diagnosing primary immunodeficiencies in Uganda

Abstract

Purpose of reviewPrimary immunodeficiencies (PIDs) lately referred to as inborn errors of immunity, are consequences of mutations that affect the immune integrity and function. Globally, severe PIDs are more common in infants and are fatal if not timely – appropriately diagnosed and managed. PID programmes and policies vary from country to country. The purpose of this review is to highlight PIDs initiatives and activities in Uganda with a focus on challenges and ideas for diagnosis.Recent findingsIt is now established that appropriate PID diagnosis leads to best treatment options for quality of life for the patients. However, there are still global disparities with these great milestones. PID awareness remains a fundamental global challenge. Autoimmune cytopenia, haemogram and peripheral blood film may be critical PIDs diagnostic markers and tests, respectively, for low-income countries.SummaryAs awareness is a master key to appropriate PID diagnosis and management, there is a need to design multidisciplinary and sustainable strategies. Complete blood counts and immunoglobulin profile tests may be less expensive alternatives for early diagnosis of PIDs in Uganda and other low-income countries.