Newly Discovered Genetic Disorder (Absence of CCR2) Causes Rare Lung Disease

CCR2

The macrophage is one of the body’s most important inhabitants. Meaning “big eater” in Greek, this immune cell consumes and digests problematic elements from microbes and cancer cells to dust and debris. Macrophages are especially important in the lungs, where they both fight bacterial infection and clear the lungs of excess surfactant, a protein- and lipid-rich layer that’s essential to healthy function but can create a sticky buildup if not controlled. In a recent study, investigators from Rockefeller University and other institutions have discovered a never-before-documented genetic disorder that causes the improper functioning of these cells. The researchers made their discovery by drawing an unexpected connection between a select group of sick children. Throughout their lives, these nine children had battled severe diseases such as pulmonary alveolar proteinosis (PAP), progressive polycystic lung disease, and recurrent bacterial and viral infections that left them gasping for breath from often cyst-plagued lungs.

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