A Novel AGR2 Variant Causing Aberrant Monomer-Dimer Equilibrium Leading to Severe Respiratory and Digestive Symptoms.

Anterior gradient 2 (AGR2) is a protein disulfide isomerase that is important for protein processing in the endoplasmic reticulum and is essential for mucin production in the digestive and respiratory tracts. Bi-allelic AGR2 variants were recently found to cause recurrent respiratory infections and failure to thrive with or without diarrhea (RIFTD; MIM # 620233), although the mechanisms behind this condition remain unclear. To date, at least 15 patients with homozygous AGR2 variants have been reported.

[Toxocarosis and acalculous acute cholecystitis: Consequence or coincidence?].

Human toxocarosis is a chronic larval parasitosis listed as one of the five most important neglected diseases by the CDC. The larvae can spread systemically and migrate to different tissues including liver and gallbladder. Acalculous acute cholecystitis (AAC) is a rare disease in children.