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

Microbes and Infection
Margje H HaverkampS M Holland

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.

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Citations

Nov 9, 2010·Journal of Clinical Immunology·Ines Ackerl KristensenMette Christiansen
Oct 15, 2013·The Journal of Infection·Margje H HaverkampJaap T van Dissel
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Apr 2, 2013·The Journal of Allergy and Clinical Immunology·Elizabeth P SampaioSteven M Holland

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