Please use this identifier to cite or link to this item: https://www.um.edu.mt/library/oar/handle/123456789/1149
Title: The role of the A C395 IFNGR1 mutation in determining susceptibility to intracellular infection in Malta
Authors: Anderson, Suzanne T.
Mangion, Mariella
Newport, Melanie J.
Felice, Alex E.
Hibberd, Martin
Levin, Mike
Attard Montalto, Simon
Keywords: Mycobacterial diseases -- Malta
Receptors, Interferon
Mycobacterium avium-intracellulare infection
Issue Date: 2012
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.
URI: https://www.um.edu.mt/library/oar//handle/123456789/1149
Appears in Collections:MMJ, Volume 24, Issue 2
MMJ, Volume 24, Issue 2
Scholarly Works - FacM&SPae

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