Article
Clinical and genetic heterogeneity of inherited autosomal recessive susceptibility to disseminated Mycobacterium bovis bacille calmette-guérin infection.
The Journal of infectious diseases - 15 May 2002
Elloumi-Zghal Houda, Barbouche Mohamed Ridha, Chemli Jalel, Béjaoui Mohamed, Harbi Abdelaziz, Snoussi Noureddine, Abdelhak Sonia, Dellagi Koussay
Abstract excerpt
Five patients from 4 unrelated Tunisian families who presented with disseminated neonatal infection by Mycobacterium bovis bacille Calmette-Guérin strain were investigated. Two unrelated patients had different homozygous interleukin-12 receptor beta1 subunit gene splice-site mutations (64+5G-->A and 550-2A-->G). Two siblings and 1 unrelated patient, all of whom were from the same town, carried the same mutation...
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