Disseminated Mycobacterium genavense infection in a patient with a novel partial interleukin-12/23 receptor beta 1 deficiency

J Potjewijd, RA de Paus, A van Wengen, J Damoiseaux, Annelies Verbon, E van de Vosse

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Abstract

A patient presented with late onset disseminated nontuberculous mycobacterium (NTM) infection due to a novel interleukin-12/interleukin-23 receptor beta 1 (IL-12/IL-23R beta 1) mutation, r.1561C>G, leading to the amino acid substitution R521G. This is the second patient reported with a partial IL-12/IL-23R beta 1 defect. (C) 2012 Elsevier Inc. All rights reserved.
Original languageUndefined/Unknown
Pages (from-to)83-86
Number of pages4
JournalClinical Immunology
Volume144
Issue number2
DOIs
Publication statusPublished - 2012

Research programs

  • EMC MM-04-28-04

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