Related resources
Full-text held externally
- PMID: 22695533
- UKPMCID: 22695533
- DOI: 10.1016/j.clim.2012.05.007
Search for item elsewhere
University researcher(s)
Academic department(s)
Disseminated Mycobacterium genavense infection in a patient with a novel partial interleukin-12/23 receptor β1 deficiency.
Potjewijd, Judith; de Paus, Roelof A; van Wengen, Annelies; Damoiseaux, Jan; Verbon, Annelies; de Vosse, Esther van
Clinical immunology (Orlando, Fla.). 2012;144(2):83-6.
Access to files
Full-text and supplementary files are not available from Manchester eScholar. Full-text is available externally using the following links:
Full-text held externally
- PMID: 22695533
- UKPMCID: 22695533
- DOI: 10.1016/j.clim.2012.05.007
Abstract
A patient presented with late onset disseminated nontuberculous mycobacterium (NTM) infection due to a novel interleukin-12/interleukin-23 receptor β1 (IL-12/IL-23Rβ1) mutation, r.1561C>G, leading to the amino acid substitution R521G. This is the second patient reported with a partial IL-12/IL-23Rβ1 defect.