Clinical and Genetic Heterogeneity of Inherited Autosomal Recessive Susceptibility to Disseminated Mycobacterium bovis Bacille Calmette-Guérin Infection

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 β1 subunit gene splice-site mutations (64+5G→A and 550-...

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Veröffentlicht in:	The Journal of infectious diseases 2002-05, Vol.185 (10), p.1468-1475
Hauptverfasser:	Elloumi-Zghal, Houda, Barbouche, Mohamed Ridha, Chemli, Jalel, Béjaoui, Mohamed, Harbi, Abdelaziz, Snoussi, Noureddine, Abdelhak, Sonia, Dellagi, Koussay
Format:	Artikel
Sprache:	eng
Schlagworte:	Antibacterial agents Antibiotics. Antiinfectious agents. Antiparasitic agents Bacterial diseases BCG Vaccine BCG Vaccine - adverse effects Biological and medical sciences Child, Preschool Complementary DNA Exons Fatal Outcome Female Genetic heterogeneity Genetic mutation Genetic Predisposition to Disease Genetic Predisposition to Disease - genetics Genomics Human bacterial diseases Humans Infant Infections Infectious diseases Interferon-gamma Interferon-gamma - deficiency Interferon-gamma - genetics Interleukin-12 Interleukin-12 - deficiency Interleukin-12 - genetics Life Sciences Major Articles Male Medical sciences Messenger RNA Mutation Mycobacterium bovis Pedigree Pharmacology. Drug treatments Receptors Receptors, Interleukin Receptors, Interleukin - deficiency Receptors, Interleukin - genetics Receptors, Interleukin-12 Sequencing T lymphocytes Tuberculosis and atypical mycobacterial infections Tuberculosis, Miliary Tuberculosis, Miliary - etiology Tuberculosis, Miliary - genetics Tunisia Vaccination Vaccination - adverse effects
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