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.
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.
Haverkamp
M H
MH
Department of Infectious Diseases, Leiden University Medical Center, Albinusdreef, Postbus 9600, 2300 RC Leiden, The Netherlands. mhaverkamp@niaid.nih.gov
van Dissel
J T
JT
Holland
S M
SM
D000818:Animals; D002467:Cell Nucleus / Q000378:metabolism; D020022:Genetic Predisposition to Disease; D006801:Humans; D007111:Immunity, Cellular; D007113:Immunity, Innate; D007371:Interferon-gamma / Q000276:immunology* / Q000378:metabolism; D051379:Mice; D009154:Mutation; D009161:Mycobacterium; D009164:Mycobacterium Infections / Q000235:genetics* / Q000276:immunology; D017471:Receptors, Interferon / Q000172:deficiency / Q000235:genetics / Q000378:metabolism; D012008:Recurrence; D050794:STAT1 Transcription Factor / Q000172:deficiency / Q000235:genetics / Q000378:metabolism; D015533:Transcriptional Activation; D000096743:Interferon gamma Receptor
D007371:Interferon-gamma; D017471:Receptors, Interferon; D050794:STAT1 Transcription Factor; D000096743:Interferon gamma Receptor; C494079:STAT1 protein, human