Jan 13, 2022

Hereditary Mucin Deficiency Caused by Biallelic Loss of Function of MUC5B

American journal of respiratory and critical care medicine
Gregory Costain, Zhen Liu, Vito Mennella, Giorgia Radicioni, Adrienn N Goczi, Alexandra Albulescu, Susan Walker, Bo Ngan, David Manson, Reza Vali, Meraj Khan, Nades Palaniyar, David B Hill, David A Hall, Christian R Marshall, Michael Knowles, Maimoona A Zariwala, Mehmet Kesimer, Sharon D Dell
Rationale: Mucin homeostasis is fundamental to airway health. Upregulation of airway mucus glycoprotein MUC5B is observed in diverse common lung diseases and represents a potential therapeutic target. In mice, Muc5b is required for mucociliary clearance and for controlling inflammation after microbial exposure. The consequences of its loss in humans are unclear. Objectives: The goal of this study was to identify and characterize a family with congenital absence of MUC5B protein. Methods: We...