Clinical and genetic heterogeneity of inherited autosomal recessive susceptibility to disseminated Mycobacterium bovis bacille calmette-guérin infection. - Archive ouverte HAL Access content directly
Journal Articles Journal of Infectious Diseases Year : 2002

Clinical and genetic heterogeneity of inherited autosomal recessive susceptibility to disseminated Mycobacterium bovis bacille calmette-guérin infection.

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Abstract

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 (297del8) within the interleukin-12p40 gene. This is the first description of familial cytokine deficiency reported so far. All patients had complete lack of expression of the affected polypeptide and a profound deficiency of in vitro interferon-gamma production. The clinical severity of the mycobacterial infection was heterogeneous, even among affected members of the same family, which suggests the intervention of modifying genes.

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pasteur-00876850 , version 1 (25-10-2013)

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Houda Elloumi-Zghal, Mohamed-Ridha Barbouche, Jalel Chemli, Mohamed Béjaoui, Abdelaziz Harbi, et al.. Clinical and genetic heterogeneity of inherited autosomal recessive susceptibility to disseminated Mycobacterium bovis bacille calmette-guérin infection.. Journal of Infectious Diseases, 2002, 185 (10), pp.1468-75. ⟨10.1086/340510⟩. ⟨pasteur-00876850⟩

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