This autosomal recessive disease is characterized by recurrent bacterial infections, partial oculo-cutaneous albinism (lack of skin and eye pigment), and aggressive but nonmalignant infiltration of organs by lymphoid cells. Phagocytes from patients with this immune defect contain giant granules but do not have the ability to kill bacteria. The molecular basis of the defect is a mutation in a protein (LYST) involved in the regulation of intracellular trafficking. The mutation impairs the targeting of proteins to secretory lysosomes, which makes them unable to lyse bacteria.
Was this article helpful?
This ebook provides an introductory explanation of the workings of the human body, with an effort to draw connections between the body systems and explain their interdependencies. A framework for the book is homeostasis and how the body maintains balance within each system. This is intended as a first introduction to physiology for a college-level course.