Airway mucus obstruction is a hallmark of many chronic lung diseases including rare genetic
disorders such as cystic fibrosis (CF) and primary ciliary dyskinesia, as well as common lung …

Background Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition that leads to
decreased circulating alpha-1 antitrypsin (AAT) levels, significantly increasing the risk of …

Neutrophils are the predominant immune cells in human blood possessing heterogeneity,
plasticity and functional diversity. The activation and recruitment of neutrophils into inflamed …

Rationale: Augmentation therapy with intravenous AAT (alpha-1 antitrypsin) is the only
specific therapy for individuals with pulmonary disease from AAT deficiency (AATD). The …

Background Preterm birth is defined as live birth before 37 completed weeks of pregnancy,
and it is a major problem worldwide. The molecular mechanisms that lead to onset of …

Aim To investigate associations between periodontitis and chronic obstructive pulmonary
disease (COPD) with and without alpha‐1 antitrypsin deficiency (AATD), including …

Genome-editing systems based on clustered, regularly interspaced, short palindromic
repeat (CRISPR)/associated protein (CRISPR/Cas), are emerging as a revolutionary …

Adult‐onset immunodeficiency syndrome (AOID) with anti‐interferon (IFN)‐γ autoantibodies
is characterized by an AIDS‐like illness with disruptive IFN‐γ signaling. Patients generally …

Background: Generalized pustular psoriasis (GPP; MIM 614204) is a rare and severe
pustular autoinflammatory skin disease in which acute generalized erythema and scaling …

Abstract Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder, characterized by
panacinar emphysema mainly in the lower lobes, and predisposes to chronic obstructive …