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 Infect. 2006 Apr;8(4):1157-66. doi: 10.1016/j.micinf.2005.10.029. Epub 2006 Jan 19.


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.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.
  • Review

MeSH terms

  • Animals
  • Cell Nucleus / metabolism
  • Genetic Predisposition to Disease
  • Humans
  • Immunity, Cellular
  • Immunity, Innate
  • Interferon-gamma / immunology*
  • Interferon-gamma / metabolism
  • Mice
  • Mutation
  • Mycobacterium Infections / genetics*
  • Mycobacterium Infections / immunology
  • Mycobacterium*
  • Receptors, Interferon / deficiency
  • Receptors, Interferon / genetics
  • Receptors, Interferon / metabolism
  • Recurrence
  • STAT1 Transcription Factor / deficiency
  • STAT1 Transcription Factor / genetics
  • STAT1 Transcription Factor / metabolism
  • Transcriptional Activation


  • Receptors, Interferon
  • STAT1 Transcription Factor
  • STAT1 protein, human
  • interferon gamma receptor
  • Interferon-gamma