High Levels of Interferon Gamma in the Plasma of Children With Complete Interferon Gamma Receptor Deficiency
- 1 April 2001
- journal article
- Published by American Academy of Pediatrics (AAP) in Pediatrics
- Vol. 107 (4), e48
- https://doi.org/10.1542/peds.107.4.e48
Abstract
We have found that children with complete interferon gamma (IFNγ) receptor deficiency, unlike patients with other genetic defects predisposing them to mycobacterial diseases, have very high levels of IFNγ in their plasma. This unexpected observation provides a simple and accurate diagnostic method for complete IFNγ receptor deficiency in children with clinical disease caused by bacille Calmette-Guérin vaccines or environmental nontuberculous mycobacteria.Keywords
This publication has 14 references indexed in Scilit:
- Interferon-γ and interleukin-12 pathway defects and human diseaseCytokine & Growth Factor Reviews, 2000
- Clinical consequences of defects in the IL-12-dependent interferon-gamma (IFN-γ) pathwayClinical and Experimental Immunology, 2000
- In a novel form of IFN-γ receptor 1 deficiency, cell surface receptors fail to bind IFN-γJournal of Clinical Investigation, 2000
- Partial Interferon‐γ Receptor Signaling Chain Deficiency in a Patient with Bacille Calmette‐Guérin andMycobacterium abscessusInfectionThe Journal of Infectious Diseases, 2000
- A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infectionNature Genetics, 1999
- Abnormal Regulation of Interferon‐γ, Interleukin‐12, and Tumor Necrosis Factor‐α in Human Interferon‐g Receptor 1 DeficiencyThe Journal of Infectious Diseases, 1998
- Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection.Journal of Clinical Investigation, 1998
- Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis.Journal of Clinical Investigation, 1997
- Interferon-γ –Receptor Deficiency in an Infant with Fatal Bacille Calmette–Guérin InfectionNew England Journal of Medicine, 1996
- A Mutation in the Interferon-γ –Receptor Gene and Susceptibility to Mycobacterial InfectionNew England Journal of Medicine, 1996