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BackgroundTransforming growth factor-β1 (TGF-β1) contributes to more severe pulmonary disease in people with cystic fibrosis (pwCF). Our preclinical in vitro and in vivo studies demonstrated that losartan could reverse...

This study demonstrates up-regulation of alveolar macrophages expressing genes important for inflammation and lipid metabolism in people with cystic fibrosis, identifying potential therapeutic targets. Cystic fibrosis (C...

Abstract Congenital pulmonary airway malformation (CPAM), especially type I, is an uncommon developmental lung defect marked by abnormal proliferation of pseudostratified ciliated columnar epithelium (PCCE) and the prese...

BackgroundN-acetylcysteine (NAC) is a key precursor of glutathione (GSH), the lung’s principal antioxidant. First developed as a mucolytic, NAC is now recognized for broader antioxidant, anti-inflammatory, immunomodula...

Early diagnosis of primary immunodeficiency (PID) remains a significant clinical challenge, often delaying treatment and increasing the risk of severe infections. Accurate identification of antibody (Ab) deficiencies typ...

Deficiency of adenosine deaminase 2 (DADA2) was identified in 2014 as a novel inborn error of immunity caused by biallelic pathogenic variants in ADA2. DADA2 patients express two predominant clinical phenotypes: (1) auto...

This study presents PrimDx, a diagnostic test that applies machine learning (ML) to whole blood transcriptomic data to improve early detection and diagnosis of primary immunodeficiency (PID). Delays in PID diagnosis are ...

IntroductionRNU4ATAC-opathies are characterized by biallelic pathogenic variants and include three recognized phenotypes: autosomal recessive Roifman syndrome, microcephalic osteodysplastic primordial dwarfism (MOPD), an...

The two principal cell types of the exocrine pancreas, acinar and ductal cells, serve distinct but complementary roles. Acinar cells synthesize and secrete digestive enzymes, whereas duct cells secrete fluid and bicarbon...