Molecular and Immunological Characteristics of Granulomatous and Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency Patients

Common Variable Immunodeficiency (CVID) is the most prevalent primary immunodeficiency in adults and is associated with a broad spectrum of complications such as infections, autoimmunity and granulomatous disease. One of the most serious is granulomatous and lymphocytic interstitial lung disease (GLILD), a rare lung condition characterized by granuloma formation that leads to tissue damage, respiratory symptoms, and overall increased morbidity and mortality. Due to limited knowledge and the absence of clear diagnostic criteria a significant diagnostic delay is often seen.
This project aims to identify immunological, microbiological, and genetic markers that distinguish GLILD from other CVID phenotypes and from these findings to develop tools for earlier diagnosis. CVID and GLILD patients from the Region of Southern and Central Denmark are included in the project and undergo clinical assessment, blood tests, and selected patients receive bronchoscopy. The study combines clinical register data, laboratory analysis, protein composition, lung microbiota and whole genome sequencing in an attempt to establish new tools for early diagnosis and enable targeted treatment strategies. Results are expected to improve the diagnostic accuracy, reduce unnecessary testing, and ultimately improve patient outcomes and quality of life.