Disseminated Mycobacterium genavense infection in a patient with a novel partial interleukin-12/23 receptor β1 deficiency.

Judith Potjewijd, Roelof A de Paus, Annelies van Wengen, Jan Damoiseaux, Annelies Verbon, Esther van de Vosse

Journal: Clinical immunology (Orlando, Fla.) 2012;144(2):83-6

PMID: 22695533

Full Text on Elsevier Science View on PubMed

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.

Address: Department of Internal Medicine, Division of Clinical and Experimental Immunology, Maastricht University Medical Center, Maastricht, The Netherlands. [email protected]

DOI: 10.1016/j.clim.2012.05.007

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MeSH Terms: Adult, Base Sequence, Cytokines, Genotype, Humans, Immunophenotyping, Interleukin-12 Receptor beta 1 Subunit, Male, Mutation, Mycobacterium Infections, Nontuberculous, Nontuberculous Mycobacteria, Phosphorylation, Receptors, Interleukin, STAT4 Transcription Factor