Article
A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection.
Nature genetics - 1 Apr 1999
Jouanguy E, Lamhamedi-Cherradi S, Lammas D, Dorman S E, Fondanèche M C, Dupuis S, Döffinger R, Altare F, Girdlestone J, Emile J F, Ducoulombier H, Edgar D, Clarke J, Oxelius V A, Brai M, Novelli V, Heyne K, Fischer A, Holland S M, Kumararatne D S, Schreiber R D, Casanova J L
Abstract excerpt
The immunogenetic basis of severe infections caused by bacille Calmette-Guérin vaccine and environmental mycobacteria in humans remains largely unknown. We describe 18 patients from several generations of 12 unrelated families who were heterozygous for 1 to 5 overlapping IFNGR1 frameshift small deletions and a wild-type IFNGR1 allele. There were 12 independent mutation events at a single mutation site, defining a...
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