APDS Disorder Masked Under Asthma And Tuberculosis: A Rare Case Report

Abstract

Background: Activated Phosphoinositide 3 Kinase Delta Syndrome (APDS) is a rare condition that affects the immune system. It is caused by specific genetic mutations that lead to increased activity of PI3Kδ. One of the main features of this syndrome is recurrent infections in the ear, sinuses, upper and lower respiratory tract. Lymphoma and complications from stem cell transplant are the primary factors contributing to mortality in APDS patients, with mortality rates of 47.6% and 15.6% respectively.
Case: The study presents a case of 24-year-old female with medical history of recurring infections and asthma that was diagnosed at the age of 8. At the tender age of 20, her health began to decline as she faced a series of challenging infections started with Aspergillus, followed by Tuberculosis, then COVID-19, and finally Nocardia.

Discussion: An investigation into primary immunodeficiency was carried out. The immunoglobulin levels were found to be within the normal range, ruling out Common Variable Immunodeficiency (CVID). An analysis of immunochemistry data indicated a significant reduction in the proportion and total count of Natural Killer cells. Although the occurrence of Aspergillosis with a secondary Tuberculosis infection is not frequently observed in APDS, it was indeed identified in this specific case.

Conclusion: This case emphasises the challenging issue of persistent occurrence of opportunistic infections such as nocardiosis, coupled with the development of antibiotic resistance due to prolonged usage making the diagnosis and treatment tough.