ATG16L1 and pachyonychia congenita: The loss of Atg7 in the intestinal epithelium led to PC abnormalities (i.e., aberrant granules) similar to those associated with the loss of function of both Atg16L1 and Atg5. The study suggested that a defect in the autophagy pathway in the intestinal epithelium is responsible for PC pathology [182].