Disseminated Mycobacterium genavense infection in a patient with a novel partial interleukin-12/23 receptor beta1 deficiency

J. Potjewijd, R.A. de Paus, A. van Wengen, J.G.M.C. Damoiseaux, A. Verbon, E. van de Vosse

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

A patient presented with late onset disseminated nontuberculous mycobacterium (NTM) infection due to a novel interleukin-12/interleukin-23 receptor beta1 (IL-12/IL-23Rbeta1) mutation, r.1561C>G, leading to the amino acid substitution R521G. This is the second patient reported with a partial IL-12/IL-23Rbeta1 defect.
Original languageEnglish
Pages (from-to)83-86
Number of pages4
JournalClinical Immunology
Volume144
Issue number2
DOIs
Publication statusPublished - Aug 2012

Keywords

  • Type-1 cytokine pathway
  • Nontuberculous mycobacteria
  • Interleukin-12/23 receptor beta 1 deficiency
  • IL-12R-BETA-1 DEFICIENCY
  • IMMUNITY

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