Please use this identifier to cite or link to this item:
|Title:||The role of the A C395 IFNGR1 mutation in determining susceptibility to intracellular infection in Malta|
|Authors:||Anderson, Suzanne T.|
Newport, Melanie J.
Felice, Alex E.
Attard Montalto, Simon
|Keywords:||Mycobacterial diseases -- Malta|
Mycobacterium avium-intracellulare infection
|Publisher:||Malta Medical Journal|
|Citation:||Malta Medical Journal. 2012, Vol.24(2), p. 16-19|
|Abstract:||Background: The first human mycobacterial susceptibility gene was identified amongst four children on the island of Malta in 1995. All affected children were homozygous for a nonsense mutation at position 395 of the interferon gamma receptor 1 (IFNGR1) gene, and all but one died of overwhelming mycobacterial infection. The population of Malta has high rates of infection with intracellular pathogens; leishmania, brucellosis and tuberculosis are all endemic, while leprosy, which was previously endemic, has only recently been eradicated. We hypothesised that heterozygous carriers of the IFNGR1 gene mutation, while resistant to infection with poorly pathogenic organisms, may have increased susceptibility to infection with more virulent pathogens. Methodology and Result: Screening patients with a past history of intracellular infection and healthy newborns for the presence of the IFNGR1 A->C395 mutation, using sequence specific primer PCR, did not identify any carriers of the mutation. Conclusion: These results suggest that the IFNGR1 mutation is unlikely to be of public health significance on Malta.|
|Appears in Collections:||MMJ, Volume 24, Issue 2|
MMJ, Volume 24, Issue 2
Scholarly Works - FacM&SPae
Files in This Item:
|2012.Vol24.Issue2.A3.pdf||The role of the A C395 IFNGR1 mutation in determining susceptibility to intracellular infection in Malta||221.07 kB||Adobe PDF||View/Open|
Items in OAR@UM are protected by copyright, with all rights reserved, unless otherwise indicated.