Abstract:
:Mendelian susceptibility to mycobacterial diseases confers predisposition to clinical disease caused by weakly virulent mycobacterial species in otherwise healthy individuals. Since 1996, disease-causing mutations have been found in five autosomal genes (IFNGR1, IFNGR2, STAT1, IL12B, IL12BR1) and one X-linked gene (NEMO). These genes display a high degree of allelic heterogeneity, defining at least 13 disorders. Although genetically different, these conditions are immunologically related, as all result in impaired IL-12/23-IFN-gamma-mediated immunity. These disorders were initially thought to be rare, but have now been diagnosed in over 220 patients from over 43 countries worldwide. We review here the molecular, cellular, and clinical features of patients with inborn errors of the IL-12/23-IFN-gamma circuit.
journal_name
Semin Immunoljournal_title
Seminars in immunologyauthors
Filipe-Santos O,Bustamante J,Chapgier A,Vogt G,de Beaucoudrey L,Feinberg J,Jouanguy E,Boisson-Dupuis S,Fieschi C,Picard C,Casanova JLdoi
10.1016/j.smim.2006.07.010subject
Has Abstractpub_date
2006-12-01 00:00:00pages
347-61issue
6eissn
1044-5323issn
1096-3618pii
S1044-5323(06)00104-7journal_volume
18pub_type
杂志文章,评审abstract::Many immune cells can detect the direction and intensity of an extracellular chemical gradient, and migrate toward the source of stimulus. This process, called chemotaxis, is essential for immune system function and homeostasis, and its deregulation is associated with serious diseases. Chemotaxis is initiated by chemo...
journal_title:Seminars in immunology
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journal_title:Seminars in immunology
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journal_title:Seminars in immunology
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journal_title:Seminars in immunology
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journal_title:Seminars in immunology
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journal_title:Seminars in immunology
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journal_title:Seminars in immunology
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更新日期:1994-10-01 00:00:00
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journal_title:Seminars in immunology
pub_type: 杂志文章,评审
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更新日期:1998-12-01 00:00:00
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journal_title:Seminars in immunology
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journal_title:Seminars in immunology
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journal_title:Seminars in immunology
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journal_title:Seminars in immunology
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journal_title:Seminars in immunology
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journal_title:Seminars in immunology
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journal_title:Seminars in immunology
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journal_title:Seminars in immunology
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journal_title:Seminars in immunology
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