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Microbes Infect. 2006 Apr;8(4):1157-66. Epub 2006 Jan 19.

Human host genetic factors in nontuberculous mycobacterial infection: lessons from single gene disorders affecting innate and adaptive immunity and lessons from molecular defects in interferon-gamma-dependent signaling.

Author information

1
Department of Infectious Diseases, Leiden University Medical Center, Albinusdreef, Postbus 9600, 2300 RC Leiden, The Netherlands. mhaverkamp@niaid.nih.gov

Abstract

Mendelian defects in interferon-gamma (IFN-gamma) signaling most commonly lead to infection with nontuberculous mycobacteria. Mutations have been identified in the genes encoding IFN-gamma-receptor-1, IFN-gamma-receptor-2 and Stat-1. Partial and complete deficiencies in signaling are found, leading to parallel clinical, pathological, and cellular phenotypes. These rare defects have led to better molecular and mechanistic understanding of the role of IFN-gamma in the human immune system.

PMID:
16520075
DOI:
10.1016/j.micinf.2005.10.029
[Indexed for MEDLINE]

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