Chapter title |
Perforin and human diseases.
|
---|---|
Chapter number | 11 |
Book title |
MACPF/CDC Proteins - Agents of Defence, Attack and Invasion
|
Published in |
Sub cellular biochemistry, January 2014
|
DOI | 10.1007/978-94-017-8881-6_11 |
Pubmed ID | |
Book ISBNs |
978-9-40-178880-9, 978-9-40-178881-6
|
Authors |
Omar Naneh, Tadej Avčin, Apolonija Bedina Zavec, Naneh, Omar, Avčin, Tadej, Bedina Zavec, Apolonija |
Abstract |
Natural killer (NK) cells and cytotoxic T lymphocytes (CTL) use a highly toxic pore-forming protein perforin (PFN) to destroy cells infected with intracellular pathogens and cells with pre-cancerous transformations. However, mutations of PFN and defects in its expression can cause an abnormal function of the immune system and difficulties in elimination of altered cells. As discussed in this chapter, deficiency of PFN due to the mutations of its gene, PFN1, can be associated with malignancies and severe immune disorders such as familial hemophagocytic lymphohistiocytosis (FHL) and macrophage activation syndrome. On the other hand, overactivity of PFN can turn the immune system against autologous cells resulting in other diseases such as systemic lupus erythematosus, polymyositis, rheumatoid arthritis and cutaneous inflammation. PFN also has a crucial role in the cellular rejection of solid organ allografts and destruction of pancreatic β-cells resulting in type 1 diabetes. These facts highlight the importance of understanding the biochemical characteristics of PFN. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 22 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 6 | 27% |
Student > Doctoral Student | 3 | 14% |
Student > Bachelor | 3 | 14% |
Professor | 2 | 9% |
Student > Master | 2 | 9% |
Other | 4 | 18% |
Unknown | 2 | 9% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 6 | 27% |
Medicine and Dentistry | 6 | 27% |
Biochemistry, Genetics and Molecular Biology | 4 | 18% |
Immunology and Microbiology | 2 | 9% |
Nursing and Health Professions | 1 | 5% |
Other | 0 | 0% |
Unknown | 3 | 14% |