Acyl-CoA:diacylglycerol acyltransferase (DGAT)1 and DGAT2 catalyze triglyceride (TG) biosynthesis in humans. Biallelic loss-of-function mutations in human DGAT1 result in severe congenital diarrhea and protein-losing enteropathy. Additionally, pharmacologic inhibition of DGAT1 led to dose-related diarrhea in human clinical trials. Here we identify a previously unknown DGAT1 mutation in identica...

Protein-losing gastroenteropathies are characterized by an excessive loss of serum proteins into the gastrointestinal tract, resulting in hypoproteinemia (detected as hypoalbuminemia), edema, and, in some cases, pleural and pericardial effusions. Protein-losing gastroenteropathies can be caused by a diverse group of disorders and should be suspected in a patient with hypoproteinemia in whom oth...

Background Coeliac disease (CD) is an enteropathy that affects about 0,5-1% of the population. Even though it could be associated to diabetes, thyroiditis and Sjögren syndrome, there is not conclusive studies about its juvenile idiopathic arthritis (JIA) correlation. Testing for fecal calprotectin is an effective way to screen for inflammatory bowel disease. Protein-losing enteropathy screening...

Protein-losing enteropathy is rarely seen in patients with systemic lupus erythematosus. This clinical condition should be suspected in the presence of persistent hypoalbuminemia despite normal liver function, adequate protein intake, and no significant proteinuria. We report the case of a 48-year-old female with weight loss, cavity effusions (ascites and pleural effusion), and lower extremity ...

The complement is a part of the immune system that plays several roles in removing pathogens. Despite the importance of the complement system, the exact role of each component has been overlooked because the complement system was thought to be a nonspecific humoral immune mechanism that worked against pathogens. Decay-accelerating factor (DAF or CD55) is a known inhibitor of the complement syst...