Eagappanath Thiruppathi, Joannah Kim, Rico Djidotor, Aamir Ali, Brenna C. Carey, Bruce C. Trapnell. TrilliumBiO, Rockville, MD, United States; Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, United States.

Introduction:

Background:
Autoimmune pulmonary alveolar proteinosis (autoimmune PAP) is a rare lung disease characterized by the abnormal accumulation of surfactant within the alveoli. This buildup impairs normal lung function, leading to symptoms such as progressive shortness of breath, fatigue, and increased susceptibility to lung infections – all impacting patients’ quality of life1. Autoimmune PAP is caused by autoantibodies against granulocyte-macr(GM-CSF), a cytokine essential for the differentiation and function of alveolar macrophages that ophage colony-stimulating factor clear surfactant from the lungs. These autoantibodies block normal GM-CSF signaling, which leads to malfunctioning macrophages, abnormal accumulation of surfactant and reduced gas transfer between lung and blood.

Rationale:
Timely and accurate detection of GM-CSF autoantibodies is critical for diagnosis of autoimmune PAP. Conventional testing requires serum collection via venipuncture, which can be inconvenient, and limits testing accessibility in some clinical settings.

Objective:
This study was conducted to develop and validate a novel laboratory assay to detect GM-CSF autoantibodies from dried spot obtained using the ADX100 serum separator card. This approach facilitates easy transport, and storage of patient samples, potentially expanding access to testing.

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