Novel mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infections

M Storgaard; K Varming; T Herlin; N Obel

doi:10.1111/j.1365-3083.2006.01775.x

Novel mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infections

Scand J Immunol. 2006 Aug;64(2):137-9. doi: 10.1111/j.1365-3083.2006.01775.x.

Authors

M Storgaard¹, K Varming, T Herlin, N Obel

Affiliation

¹ Department of Infectious Diseases, Arhus University Hospital, Aarhus N, Denmark. [email protected]

PMID: 16867158
DOI: 10.1111/j.1365-3083.2006.01775.x

Abstract

In 1981 we presented a patient with Mycobacterium intracellulare osteomyelitis and depressed monocyte cytotoxicity. It is now demonstrated that the molecular defect was a never-before-described nucleotide deletion at position 794 (794delT) in the interferon-gamma-receptor alpha-1 gene. The genetic defect was passed on to his daughter who was diagnosed with non-tuberculous mycobacterial osteomyelitis at the age of 7 years.

Publication types

Case Reports

MeSH terms

Base Sequence
Child
DNA, Bacterial / chemistry
DNA, Bacterial / genetics
Female
Genetic Predisposition to Disease
Humans
Interferon gamma Receptor
Male
Molecular Sequence Data
Mycobacterium avium Complex / growth & development*
Mycobacterium avium-intracellulare Infection / genetics*
Mycobacterium avium-intracellulare Infection / immunology*
Mycobacterium avium-intracellulare Infection / microbiology
Osteomyelitis / genetics*
Osteomyelitis / immunology
Osteomyelitis / microbiology*
Point Mutation
Receptors, Interferon / deficiency
Receptors, Interferon / genetics*
Sequence Analysis, DNA

Substances

DNA, Bacterial
Receptors, Interferon