Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features.

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 Immunol

journal_title

Seminars in immunology

authors

Filipe-Santos O,Bustamante J,Chapgier A,Vogt G,de Beaucoudrey L,Feinberg J,Jouanguy E,Boisson-Dupuis S,Fieschi C,Picard C,Casanova JL

doi

10.1016/j.smim.2006.07.010

subject

Has Abstract

pub_date

2006-12-01 00:00:00

pages

347-61

issue

6

eissn

1044-5323

issn

1096-3618

pii

S1044-5323(06)00104-7

journal_volume

18

pub_type

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